MOLPATH.MUT
Laboratory1,266 LOINC codes in this class
76033-0HEXA gene full mutation analysis in Blood or Tissue by SequencingL34501-7HADHA gene c.1528G>C [Identifier] in Blood or Tissue by Molecular genetics method NarrativeL41050-6TH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41065-4PTPN11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL47973-3TGFBR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60033-8PIK3CA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40877-3CPT2 gene p.Pro50His+Ser113Leu [Presence] in Blood or Tissue by Molecular genetics methodL56752-9APOB gene+LDLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35288-0MEN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL74780-8CPT1A gene c.1436C>T [Presence] in DBS by Molecular genetics methodL60577-4SERPINE1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL46990-8ASPA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL68467-0APOB+LDLR+PCSK9 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53789-4CFTR gene.p.IVS8 polyT 7T/9T [presence] in Blood or Tissue by Molecular genetics methodL21674-7FGFR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL75401-0GCDH gene full mutation analysis in Blood or Tissue by SequencingL77114-7FBN1 gene full mutation analysis in Blood or Tissue by SequencingL36925-6MEFV gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL76028-0IDUA gene full mutation analysis in Blood or Tissue by SequencingL76031-4NPC1 gene full mutation analysis in Blood or Tissue by SequencingL53899-1TGFBR1 gene+TGFBR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34654-4MPZ gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47972-5TGFBR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41084-5MSH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL70243-1CLN3 gene exon 7+8 deletion [Presence] in Blood or Tissue by Molecular genetics methodL70244-9CFTR gene c.394delTT [Presence] in Blood or Tissue by Molecular genetics methodL82534-9CASR gene full mutation analysis in Blood or Tissue by SequencingL56159-7LDLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL42321-0HTT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77084-2ALPL gene full mutation analysis in Blood or Tissue by SequencingL51756-5ATP7B gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55764-5EGFR gene exon 19 deletion [Presence] in Blood or Tissue by Molecular genetics methodL36918-1ALDOB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41058-9SH2D1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL69480-2CFTR gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL35297-1LMNA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34512-4NPHS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL46992-4DYS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38412-3FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55248-9HBB gene c.79G>A [Presence] in Blood by Molecular genetics methodL49862-6G6PC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55244-8HPFH-6 gene [Presence] in Blood by Molecular genetics methodL35465-4RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method NominalL47963-4JAK3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21625-9ATM gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57310-5SRY gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41209-8VWF gene.p.Arg854Gln [Presence] in Blood or Tissue by Molecular genetics methodL49706-5ARSA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38914-8RS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38928-8FAH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48968-2PKHD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48028-5SERPINE1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57759-3WAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41765-9SCN1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL77126-1PCDH15 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL60497-5SLC22A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL76037-1GALT gene full mutation analysis in Blood or Tissue by SequencingL41768-3VWF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21672-1F8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL54447-8FLT3 gene targeted mutation analysis in Bone marrow by Molecular genetics methodL57753-6IKBKG gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34647-8PPT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41077-9NOTCH3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL54083-1CFTR gene mutations found [Identifier] in DBS by Molecular genetics method NominalL53621-9NRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method NominalL21736-4SNCA gene p.Ala30Pro [Presence] in Blood or Tissue by Molecular genetics methodL41113-2Chronic lymphocytic leukemia gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL81420-2KRAS and NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41100-9GJB6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35298-9FXN gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48033-5TTR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL63419-6PIK3CA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL75974-6KRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41089-4MEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41210-6VWF gene p.Arg816Trp [Presence] in Blood or Tissue by Molecular genetics methodL38413-1FGFR3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42940-7GALT gene allele 1 [Presence] in Blood by Molecular genetics methodL35294-8PYGM gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42941-5GALT gene allele 2 [Presence] in Blood by Molecular genetics methodL41043-1VHL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77068-5AGA gene full mutation analysis in Blood or Tissue by SequencingL81861-7Karyotype in Bone marrowL21742-2WT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34514-0SLC22A18 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40471-5FBN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40351-9MT-ND4 gene m.11778G>A [Presence] in Blood or Tissue by Molecular genetics methodL38409-9SERPINA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL46989-0CFTR gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodL35461-3ELN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21717-4NF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL50750-9F13A1 gene p.Val34Leu [Presence] in Blood or Tissue by Molecular genetics methodL53795-1STK11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41086-0MLH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34718-7CFTR gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalL38536-9MLH1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34517-3CATCH22 syndrome gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21676-2FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35307-8TTR gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method NominalL57758-5TNFRSF13B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL50330-0SLC6A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34732-8APOE gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics methodL46991-6BLM gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL72508-5UGT1A1 gene c.A(TA)7TAA(*28) [Presence] in Blood or Tissue by Molecular genetics methodL34731-0APOE gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics methodL35306-0TTR gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method NominalL34727-8DMPK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38550-0MSH2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48974-0MDCR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38906-4MSH6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21652-3CDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41051-4SPINK1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34515-7GLA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48734-8CYBB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL42783-1ERBB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21618-4APC gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL35379-7HNPCC genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21725-7SERPINA1 gene p.Glu342Lys [Presence] in Blood or Tissue by Molecular genetics methodL35300-3GJB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42794-8MYC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL36911-6SCA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34650-2TSC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48330-5MCOLN1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL34193-3SMPD1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL48331-3BLM gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL43370-6CFTR gene p.IVS8 PolyT [Presence] in Blood or Tissue by Molecular genetics methodL60034-6PIK3CA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL56158-9PCSK9 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40970-6VWF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38921-3MSH6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21698-6HRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43745-9DYS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21623-4ASPA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL41117-3AS+PWS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38891-8ABCC8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21734-9RET gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL47958-4FLT3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41044-9UGT1A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21703-4KRAS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL24477-2F2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL34509-0UGT1A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38530-2BRCA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21636-6BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL60252-4MGMT gene methylation [Presence] in Tissue by Molecular genetics methodL34651-0CYP21A2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41081-1MUTYH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21739-8TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58483-9BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21666-3EGFR gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL42785-6FGFR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34502-5VHL gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21728-1PMP22 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21733-1RET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38900-7HEXA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL56022-7ACE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL64012-8CEBPA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57931-8CFTR+PRSS1+SPINK1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35137-9MECP2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL22070-7HP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL46988-2GBA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL41057-1SHOX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35693-1GBA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40693-4RET gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35466-2AS+PWS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL57930-0CFTR gene p.Asp1152His [Presence] in Blood or Tissue by Molecular genetics methodL35295-5BTK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL45327-4FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodL50998-4CFTR gene mutations tested for [#] in Blood or Tissue by Molecular genetics methodL51773-0HEXA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34492-9NOTCH3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34706-2CFTR gene c.3199del6 [Presence] in Blood or Tissue by Molecular genetics methodL21727-3PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34500-9SHOX gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53844-7BRAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21691-1HBB gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL50621-2HTT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL32628-0ACADM gene c.985A>G [Presence] in Blood or Tissue by Molecular genetics methodL62947-7MPL gene p.Trp515Leu+Trp515Lys+Ser505Asn [Presence] in Blood or Tissue by Molecular genetics methodL32630-6MSH2 gene+MLH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL20990-8APC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21692-9PRSS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL42315-2APOE gene alleles e2 and e3 and e4 [Identifier] in Blood or Tissue by Molecular genetics method NominalL21700-0Kallmann syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21712-5MTHFR gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL47969-1PTEN gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL56883-2BCHE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34658-5MCOLN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58415-1BRAF gene p.Val600Glu [Presence] in Tissue by Molecular genetics methodL34729-4CFTR gene.p.Arg117His+5T variant [Presence] in Blood or Tissue by Molecular genetics methodL32639-7FANCC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL56141-5MPL gene p.Ser505Asn [Presence] in Blood or Tissue by Molecular genetics methodL32641-3SMPD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL55201-8KIT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL32632-2HEXA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL52757-2SERPINE1 gene c.-675 4G+5G [Presence] in Blood or Tissue by Molecular genetics methodL45284-7DPYD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21726-5SERPINA1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL48726-4JAK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL77750-8DLD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21719-0NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21702-6KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21688-7HBA1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL36908-2Gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL41103-3Gene XXX mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21247-2DMD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21669-7F5 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL40477-2L1CAM gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL66502-6HBA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60488-4NPHS2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL57908-6AIRE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53864-5GAA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48600-1VPS13B gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47970-9SGCB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47397-5BCS1L gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL46226-7SGCA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44803-5GNE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41743-6BBS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40468-1SLC26A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL36920-7PROP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34498-6ACADS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21646-5CBS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77749-0CLRN1 gene c.144T>G [Presence] in Blood or Tissue by Molecular genetics methodL46965-0MCOLN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44704-5NEB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL77751-6TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics methodL21665-5EGFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43191-6FANCC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82140-5MYD88 gene p.Leu265Pro targeted mutation analysis in Blood or Tissue by Molecular genetics methodL69383-8AGXT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53845-4BTD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42318-6GALT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41101-7GJB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41097-7HADHA gene c.1528G>C [Presence] in Blood or Tissue by Molecular genetics methodL55135-8BCR-ABL1 kinase domain mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL59041-4BRCA1+BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL51952-0UGT1A1 gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method NominalL51951-2UGT1A1 gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method NominalL38918-9ABCC8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21619-2APOE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL55301-6JAK2 gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34518-1SMPD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL62948-5MPL gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL43242-7ACADM gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41104-1GBA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41091-0MEFV gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49014-4PAH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL50996-8HBB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL88519-4KIT gene c.2447A>T [Presence] in Blood or Tissue by Molecular genetics methodL55300-8JAK2 gene exon 12 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21626-7ATP7B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21680-4G6PD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53861-1FKTN gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21729-9PSAP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL32653-8DYS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58010-0MSH2 gene+MLH1 gene+MSH6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL32640-5BLM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL60279-7IL28B gene associated variant rs12979860 [Presence] in Blood or Tissue by Molecular genetics methodL21694-5HFE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL55195-2DHCR7 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42939-9CFTR gene allele 2 [Presence] in Blood or Tissue by Molecular genetics methodL42938-1CFTR gene allele 1 [Presence] in Blood or Tissue by Molecular genetics methodL21687-9HBA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL54449-4SMN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21081-5ASPA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL30005-3CYP21A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL50995-0BRCA1+BRCA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48670-4IgVH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21723-2SERPINA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41107-4FMR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49857-6SMN1 gene+SMN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL79210-1FLT3 gene internal tandem duplication [Presence] in Blood or Tissue by Molecular genetics methodL72520-0FLT3 gene.p.Asp835+Ile836 mutations [Presence] in Blood or Tissue by Molecular genetics methodL41053-0SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53761-3JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics methodL35506-5Chronic lymphocytic leukemia gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL79401-6HBB gene full mutation analysis [Identifier] in Blood or Tissue by SequencingL35474-6Gene XXX targeted mutation analysis in Blood or Tissue by Molecular genetics methodL21668-9F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics methodL35462-1SMN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL36913-2FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL63421-2JAK2 gene exon 12 mutations tested for in Blood or Tissue by Molecular genetics method NominalL58009-2MPL gene p.Trp515 [Presence] in Blood or Tissue by Molecular genetics methodL72311-4NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics methodL54448-6NPM1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21709-1MTHFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21656-4CFTR gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL28060-2MTHFR gene c.1298A>C [Genotype] in Blood or Tissue by Molecular genetics method NominalL21696-0HFE gene p.His63Asp [Presence] in Blood or Tissue by Molecular genetics methodL38380-2HFE gene.p.Ser65Cys [Presence] in Blood or Tissue by Molecular genetics methodL21695-2HFE gene.p.Cys282Tyr [Presence] in Blood or Tissue by Molecular genetics methodL28005-7MTHFR gene c.677C>T [Genotype] in Blood or Tissue by Molecular genetics method NominalL24476-4F2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34519-9HFE gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38404-0CFTR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38415-6MTHFR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43399-5JAK2 gene p.Val617Phe [Presence] in Blood or Tissue by Molecular genetics methodL21689-5HBB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21654-9CFTR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL24475-6F2 gene c.20210G>A [Genotype] in Blood or Tissue by Molecular genetics method NominalL21667-1F5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100019-9ALK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100020-7GNA11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100021-5GNAQ gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100022-3IDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100023-1IDH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100024-9SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100025-6SRSF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100026-4MET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100027-2SMAD4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100028-0FBXW7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL100305-2IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics methodL100306-0IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics methodL100664-2NUDT15 gene c.50_55dup and c.415C>T [Presence] in Blood by Molecular genetics methodL100665-9NUDT15 gene c.415C>T [Presence] in Blood by Molecular genetics methodL100666-7NUDT15 gene c.416G>A [Presence] in Blood by Molecular genetics methodL100667-5NUDT15 gene c.52G>A [Presence] in Blood by Molecular genetics methodL100668-3NUDT15 gene c.50_55dup [Presence] in Blood by Molecular genetics methodL100669-1NUDT15 gene c.50_55del [Presence] in Blood by Molecular genetics methodL100696-4CTNS related multigene analysis [Identifier] in Bodyfluid and Serum or Plasma by Molecular genetics method NominalL100762-4HBA2 gene.c.377T>C [Presence] in Blood by Molecular genetics methodL101538-7SMA residual risk [Interpretation] in Blood by Molecular genetics method NarrativeL101633-6MT-RNR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101820-9Preimplantation targeted mutation analysis in Embryo by Molecular genetics methodL101952-0MTTP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101953-8COL4A3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101954-6SLC35A3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101955-3DNAI1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101956-1COQ4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101957-9RTEL1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101958-7ADAMTS2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101959-5TCIRG1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101960-3PEX2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101961-1PHGDH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101962-9DHDDS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101963-7SLC1A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101964-5HPS3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101965-2NDUFAF5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL102101-3Acute myeloid leukemia in Blood or Tissue by FISHL103557-5SARS-CoV-2 (COVID-19) Mpro gene mutation detected [Identifier] in Specimen by Molecular genetics method NominalL103950-2NOTCH3 gene full mutation analysis in Specimen by Molecular genetics methodL103951-0Motor neuron disease multigene analysis in Specimen by Molecular genetics methodL103952-8Muscular dystrophy multigene analysis in Specimen by Molecular genetics methodL103953-6HIF2A gene targeted mutation analysis in Blood by Molecular genetics methodL103954-4Peripheral neuropathy multigene analysis in Specimen by Molecular genetics methodL103955-1KRAS Somatic mutation analysis in Tumor by Molecular genetics methodL103956-9Parkinson Disease multigene analysis in Specimen by Molecular genetics methodL103957-7Neuromuscular multigene analysis in Specimen by Molecular genetics methodL104171-4DPYD gene.c.2846A>T [Genotype] in Blood or Tissue by Molecular genetics method NominalL104172-2DPYD gene.c.1236G>A [Genotype] in Blood or Tissue by Molecular genetics method NominalL104173-0DPYD gene.c.1905+1G>A [Genotype] in Blood or Tissue by Molecular genetics method NominalL104174-8DPYD gene.c.1679T>G [Genotype] in Blood or Tissue by Molecular genetics method NominalL104268-8UBA1 gene mutation in Specimen by Molecular genetics methodL104276-1ALK gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104277-9MET gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104278-7BRAF gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104279-5ERBB2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104280-3ABCG2 gene.p.Q141K [Presence] in Blood or Tissue by Molecular genetics methodL104281-1ABCB1 gene.c.1236C>T [Presence] in Blood or Tissue by Molecular genetics methodL104282-9ABCB1 gene.c.2677G>T [Presence] in Blood or Tissue by Molecular genetics methodL104283-7DPYD gene.c.2846A>T [Presence] in Blood or Tissue by Molecular genetics methodL104284-5DPYD gene.c.1679T>G [Presence] in Blood or Tissue by Molecular genetics methodL104285-2UGT1A1 gene.p.G71R [Presence] in Blood or Tissue by Molecular genetics methodL104286-0UGT1A1 gene.p.P229Q [Presence] in Blood or Tissue by Molecular genetics methodL104287-8SLCO1B1 gene.c.521T>C [Presence] in Blood or Tissue by Molecular genetics methodL104288-6HLA-B gene.g.31431780T>G [Presence] in Blood or Tissue by Molecular genetics methodL104290-2ROS proto-oncogene 1 mutations tested for in Blood or Tissue by Molecular genetics method NominalL104293-6PDGFRA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL104302-5UGT1A9 gene.c.-275T>A [Presence] in Blood or Tissue by Molecular genetics methodL105755-3M. tuberculosis rrs gene kanamycin high level resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105756-1Mycobacterium tuberculosis eis gene mutations [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105757-9Mycobacterium tuberculosis embC-embA promoter region gene ethambutol resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105758-7Mycobacterium tuberculosis mabA gene ethionamide resistance mutation [Presence] in Isolate or Specimen by Molecular genetics methodL105759-5Mycobacterium tuberculosis mabA gene INH high level resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105760-3Mycobacterium tuberculosis mabA promoter region gene ethionamide resistance mutation [Presence] in Isolate or Specimen by Molecular genetics methodL105761-1Mycobacterium tuberculosis mabA promoter region gene INH high level resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105762-9Mycobacterium tuberculosis oxyR-ahpC promoter region gene INH high level resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105763-7Mycobacterium tuberculosis pncA promoter region gene pyrazinamide resistance mutation [Identifier] in Isolate or Specimen by Molecular genetics method NominalL105938-5DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics methodL105939-3RUNX1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL105940-1DNMT3A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL106867-5IDH1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL106868-3IDH2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL106869-1AKT1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL106870-9NGR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL106871-7NGR1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL106872-5FGFR gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL106873-3NTRK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL106874-1NTRK gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL107251-1ASXL1 gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL107252-9CSF3R gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL107253-7CBL gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL107254-5CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Sequencing NominalL107255-2MPL gene mutations tested for in Blood or Tissue by Sequencing NominalL107338-6Breast cancer molecular subtype in Tissue by Prosigna NominalL107539-9JAK2 gene.p.Val617Phe mutant/Normal in Specimen by Molecular genetics methodL107551-4IGH mutation status [Identifier] in Blood or Tissue by Molecular genetics method NominalL107552-2Gene mutations present/reference genome sequence in Blood or Tissue by Molecular genetics methodL21207-6CCR5 gene mutations found [Identifier] in Blood by Molecular genetics method NominalL21617-6APC gene p.Ile1307Lys [Presence] in Blood or Tissue by Molecular genetics methodL21622-6ASPA gene p.Glu285Ala [Presence] in Blood or Tissue by Molecular genetics methodL21624-2ATM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21627-5ATP7B gene c.2010_2016del [Presence] in Blood or Tissue by Molecular genetics methodL21628-3ATP7B gene c.2337delC [Presence] in Blood or Tissue by Molecular genetics methodL21629-1ATP7B gene c.2487insT [Presence] in Blood or Tissue by Molecular genetics methodL21630-9ATP7B gene c.1711G>C [Presence] in Blood or Tissue by Molecular genetics methodL21631-7ATP7B gene p.Gly1267Arg [Presence] in Blood or Tissue by Molecular genetics methodL21632-5ATP7B gene p.His1070Gln [Presence] in Blood or Tissue by Molecular genetics methodL21633-3ATP7B gene p.His714Gln [Presence] in Blood or Tissue by Molecular genetics methodL21634-1ATP7B gene p.Asn915Ser [Presence] in Blood or Tissue by Molecular genetics methodL21635-8ATP7B gene p.Arg778Leu [Presence] in Blood or Tissue by Molecular genetics methodL21637-4BRCA1 gene.c.185 del AG [presence] in Blood or Tissue by Molecular genetics methodL21638-2BRCA1 gene c.5382insC [Presence] in Blood or Tissue by Molecular genetics methodL21639-0BRCA1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21640-8BRCA2 gene c.6174delT [Presence] in Blood or Tissue by Molecular genetics methodL21641-6CACNA1S gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21642-4CACNA1S gene p.Arg1239Gly [Presence] in Blood or Tissue by Molecular genetics methodL21643-2CACNA1S gene p.Arg1239His [Presence] in Blood or Tissue by Molecular genetics methodL21644-0CACNA1S gene p.Arg528His [Presence] in Blood or Tissue by Molecular genetics methodL21645-7CACNA1S gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21649-9CBS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21651-5CCR5 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21653-1CDH1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21655-6CFTR gene.p.Phe508del [Presence] in Blood or Tissue by Molecular genetics methodL21657-2COL2A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21658-0COL2A1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21659-8CTNNB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21660-6CTNNB1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21670-5F7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21671-3F7 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21673-9F8 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21675-4FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21677-0FGFR3 gene p.Gly375Cys [Presence] in Blood or Tissue by Molecular genetics methodL21678-8FGFR3 gene p.Gly380Arg [Presence] in Blood or Tissue by Molecular genetics methodL21679-6FGFR3 gene p.Lys650Glu [Presence] in Blood or Tissue by Molecular genetics methodL21681-2G6PD gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21682-0Gaucher 1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21683-8Gaucher 2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21684-6Gaucher 3 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21685-3HADHB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21686-1HADHB gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21690-3HBB gene p.Glu6Val [Presence] in Blood or Tissue by Molecular genetics methodL21693-7HP gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21697-8HFE gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21699-4HRAS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21701-8Kallmann syndrome gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21704-2MT-ATP6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21705-9MT-ND4 gene m.11696G>A [Presence] in Blood or Tissue by Molecular genetics methodL21707-5MT-ND4 gene p.Thr109Ala [Presence] in Blood or Tissue by Molecular genetics methodL21713-3MT-TK gene m.8344A>G [Presence] in Blood or Tissue by Molecular genetics methodL21714-1MT-TL1 gene m.3243A>G [Presence] in Blood or Tissue by Molecular genetics methodL21715-8MXI1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21716-6NB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21718-2NF1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21720-8NRAS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21721-6OTC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21722-4OTC gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21724-0SERPINA1 gene p.Glu264Val [Presence] in Blood or Tissue by Molecular genetics methodL21730-7PSAP gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21731-5RB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21732-3RB1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21735-6SNCA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21737-2SNCA gene p.Ala53Thr [Presence] in Blood or Tissue by Molecular genetics methodL21738-0SNCA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21740-6TRAF3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL21741-4TRAF3 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21743-0WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL21768-7SCA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22066-5PRSS1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22067-3NB gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22068-1MXI1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22069-9MT-ATP6 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22071-5Gaucher 3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL22072-3Gaucher 2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL22073-1Gaucher 1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL22074-9FGFR3 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL22075-6DMD gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL34490-3MT-TK gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34491-1PRF1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34493-7PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodL34495-2TOR1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34497-8SPINK1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34499-4GPC3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34504-1GJB6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34505-8NPDC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34506-6EGR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34507-4PRX gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34508-2PANK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34510-8SDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34511-6SDHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34513-2NPHS1 gene targeted mutation analysis in Body fluid by Molecular genetics methodL34516-5SPAST gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34649-4MERRF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34653-6GJB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34656-9KEL gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics methodL34659-3ATP7A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34675-9Mitochondria Genes targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34678-3MT-RNR1 gene m.1555A>G [Presence] in Blood or Tissue by Molecular genetics methodL34679-1PTPN11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34698-1CSTB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34722-9EGR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL34739-3NR0B1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34740-1NEFL gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL34741-9RHCE gene allele [Genotype] in Blood or Tissue by Molecular genetics method NominalL35122-1MTM1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35132-0MELAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35138-7MEFV gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL35290-6RPS6KA3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35291-4UBE3A gene mutations found [Identifier] in Blood by Molecular genetics method NominalL35293-0TYR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35296-3PAX3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35299-7PSEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35302-9HYAL1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35304-5CLA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35324-3PMP22 gene allele 1 [Presence] in Blood or Tissue by Molecular genetics methodL35325-0PMP22 gene allele 2 [Presence] in Blood or Tissue by Molecular genetics methodL35340-9ASPA gene p.Tyr231Ter [Presence] in Blood or Tissue by Molecular genetics methodL35341-7ASPA gene p.Ala305Glu [Presence] in Blood or Tissue by Molecular genetics methodL35351-6Myotonic dystrophy gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35353-2FSHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35354-0COL1A1+COL1A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35355-7PABPN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35356-5TWIST1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35357-3PEO gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35358-1LHON syndrome gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35359-9AR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35372-2GBA gene p.Leu444Pro [Presence] in Blood or Tissue by Molecular genetics methodL35378-9HNPCC genes mutations tested for in Blood or Tissue by Molecular genetics method NominalL35380-5HEXA gene c.IVS7+1G>A [Presence] in Blood or Tissue by Molecular genetics methodL35381-3HEXA gene c.IVS12+1G>C [Presence] in Blood or Tissue by Molecular genetics methodL35382-1HEXA gene p.Gly269Ser [Presence] in Blood or Tissue by Molecular genetics methodL35453-0ARSA gene PD allele [Identifier] in Blood or Tissue by Molecular genetics method NominalL35464-7CMT axonal gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35472-0HEXA gene c.1277insTATC [Presence] in Blood or Tissue by Molecular genetics methodL35686-5GBA gene c.1226A>G [Presence] in Blood or Tissue by Molecular genetics methodL35687-3GBA gene c.1297G>T [Presence] in Blood or Tissue by Molecular genetics methodL35688-1GBA gene c.1448T>G and 1448T>C [Presence] in Blood or Tissue by Molecular genetics methodL35689-9GBA gene c.84insG [Presence] in Blood or Tissue by Molecular genetics methodL35690-7GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics methodL35742-6SH2D1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35744-2TP73L gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL35749-1DMPK phenotype [Type] in Blood or Tissue by Molecular genetics methodL35753-3Mitochondrial myopathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL35864-8Chronic lymphocytic leukemia gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL36912-4CATCH22 syndrome gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL36914-0FMR1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL36915-7AS+PWS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL36919-9ELN gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL38179-8Peripheral neuropathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38405-7MT-ATP6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38406-5PABPN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38407-3PAX3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38408-1PEO gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38411-5TOR1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38447-9CFTR gene c.711+1G>T [Presence] in Blood or Tissue by Molecular genetics methodL38448-7CFTR gene p.Ala455Glu [Presence] in Blood or Tissue by Molecular genetics methodL38449-5CFTR gene c.1078delT [Presence] in Blood or Tissue by Molecular genetics methodL38450-3CFTR gene c.2184delA [Presence] in Blood or Tissue by Molecular genetics methodL38451-1CFTR gene c.2789+5G>A [Presence] in Blood or Tissue by Molecular genetics methodL38452-9CFTR gene c.3120+1G>A [Presence] in Blood or Tissue by Molecular genetics methodL38453-7CFTR gene c.3659delC [Presence] in Blood or Tissue by Molecular genetics methodL38454-5CFTR gene p.Gly85Glu [Presence] in Blood or Tissue by Molecular genetics methodL38455-2CFTR gene c.621+1G>T [Presence] in Blood or Tissue by Molecular genetics methodL38456-0CFTR gene c.3849+10kbC>T [Presence] in Blood or Tissue by Molecular genetics methodL38529-4CMTX2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38531-0BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL38532-8SPG3A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38533-6TCOF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38534-4COL5A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38535-1LAMA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38537-7ARX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38895-9ELA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38896-7F9 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38902-3LITAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38904-9MFN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38905-6MLL gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL38907-2NIPA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38909-8PTCH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38911-4SDHC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38913-0TBX5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38919-7LITAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38920-5MFN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38922-1PTCH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38923-9SDHC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38924-7TBX5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38925-4RS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38927-0TRPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL38929-6FAH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38930-4EXT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL38931-2TRPS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL39080-7EPM2A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL39089-8PLP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40341-0MT-ATP6 gene m.8993T>G [Presence] in Blood or Tissue by Molecular genetics methodL40342-8MT-TL1 gene m.3271T>C [Presence] in Blood or Tissue by Molecular genetics methodL40343-6MT-TK gene m.8296A>G [Presence] in Blood or Tissue by Molecular genetics methodL40345-1MT-TK gene m.8356T>C [Presence] in Blood or Tissue by Molecular genetics methodL40346-9MT-CO1 gene m.7445A>G [Presence] in Blood or Tissue by Molecular genetics methodL40347-7MT-TL1 gene m.3256C>T [Presence] in Blood or Tissue by Molecular genetics methodL40348-5MT-TL1 gene m.3252T>C [Presence] in Blood or Tissue by Molecular genetics methodL40349-3MT-TK gene m.8363G>A [Presence] in Blood or Tissue by Molecular genetics methodL40350-1MT-TL1 gene m.3291T>C [Presence] in Blood or Tissue by Molecular genetics methodL40352-7MT-ND5 gene m.13513G>A [Presence] in Blood or Tissue by Molecular genetics methodL40353-5MT-ND6 gene m.14484T>C [Presence] in Blood or Tissue by Molecular genetics methodL40354-3MT-ND1 gene m.3460G>A [Presence] in Blood or Tissue by Molecular genetics methodL40426-9FGD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40427-7FGF23 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40428-5NIPBL gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40429-3NOD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40430-1TH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40434-3APTX gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40461-6GJB1 gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method NominalL40462-4GJB1 gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method NominalL40463-2TNFRSF1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40475-6WFS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40476-4PARK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40478-0MAPT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40833-6SOD1 gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method NominalL40859-1SOD1 gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method NominalL40871-6CNBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40872-4CBS gene c.833T>C [Presence] in Blood or Tissue by Molecular genetics methodL40873-2CBS gene c.919G>A [Presence] in Blood or Tissue by Molecular genetics methodL40876-5AMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics methodL40878-1CPT2 gene p.Gln413FSer+Gly549Asp [Presence] in Blood or Tissue by Molecular genetics methodL40930-0PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics methodL40959-9MUTYH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40961-5SFTPB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40962-3SFTPC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL40994-6CPEO syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL40995-3Mitochondria Genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41042-3WFS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41045-6TYR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41046-4TWIST1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41047-2TSC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41049-8TNFRSF1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41052-2SPAST gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41055-5SLC26A4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41056-3SLC22A18 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41059-7SFTPC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41060-5SFTPB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41061-3SDHD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41062-1SDHB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41063-9RPS6KA3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41064-7PYGM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41066-2PRX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41067-0PRF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalL41068-8PRF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41069-6PPT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41070-4Peripheral neuropathy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41071-2PARK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41072-0PANK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41073-8NR0B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41074-6NPHS1 gene mutations found [Identifier] in Body fluid by Molecular genetics method NominalL41075-3NPHS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41076-1NPDC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41078-7NIPBL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41079-5NEFL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41080-3Myotonic dystrophy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41082-9MT-TK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41083-7MTM1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41085-2MPZ gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41087-8Mitochondrial myopathy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41088-6MERRF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41090-2MELAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41092-8MAPT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41093-6LHON syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41094-4LAMA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41095-1L1CAM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41096-9KEL gene allele [Genotype] in Amniotic fluid by Molecular genetics method NominalL41098-5GPC3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41099-3GLA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41102-5GJB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41105-8FSHD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41106-6FXN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41108-2FGF23 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41109-0FGD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41110-8CSTB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41111-6COL5A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41112-4CMT axonal gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41114-0CATCH22 syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41115-7NOD2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41116-5ATP7A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41118-1AR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41119-9APTX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41120-7ALDOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41121-5ACADS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41268-4VWF gene.p.Thr791Met [Presence] in Blood by Molecular genetics methodL41748-5CAPN3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41749-3CHIC2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41750-1COCH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL41751-9COL3A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41753-5FKRP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41758-4GNAS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41764-2SBDS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL41872-3PDCD10 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL42179-2PLP1 gene duplication [Presence] in Blood or Tissue by Molecular genetics methodL42240-2CHD7 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL42316-0RHD gene allele [Genotype] in Amniotic fluid by Molecular genetics method NominalL42325-1RHD and RHCE gene alleles [Genotype] in Blood or Tissue by Molecular genetics method NominalL42777-3AKT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL42780-7CCND1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43097-5COL3A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43233-6OTC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43246-8PHOX2B gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43277-3GDAP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43310-2FBN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43358-1UNC13D gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43585-9TYMP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43744-2COX10 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43746-7KCNQ1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43747-5OCA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL43748-3SCO1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43749-1SCO2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL43750-9SURF1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44419-0CIAS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44420-8CACNA1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44421-6PKD1 gene+PKD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44606-2ALOX3+ALOX12B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL44608-8KCNQ1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL44617-9PWS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL44700-3ACTA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44701-1BHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44703-7MC4R gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL44705-2ALS4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL45190-6CASR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL45191-4CAPN3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL45331-6NF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalL45332-4NF2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalL46207-7PKD1 gene+PKD2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL46225-9ABCA3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL46731-6RHCE gene allele Cc [Genotype] in Amniotic fluid by Molecular genetics method NominalL47416-3RB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47955-0EYA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL47956-8CNR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47959-2GFAP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL47960-0GLRA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47961-8ACVRL1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47962-6JAG1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47964-2MVK gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47966-7NCF2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47967-5NSD1 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodL47968-3PINK1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL47971-7SGSH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL47974-1THRB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48024-4AS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48025-1Gene mutations tested for [#] in Blood or Tissue by Molecular genetics methodL48026-9ITGA2B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48027-7MT-ND4 gene c.G15257A [Presence] in Blood or Tissue by Molecular genetics methodL48029-3PKLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48030-1RHCE gene allele Ee [Genotype] in Amniotic fluid by Molecular genetics method NominalL48032-7THRB gene p.Ala317Thr [Presence] in Blood or Tissue by Molecular genetics methodL48161-4PROS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48578-9HFE gene c.187G>C [Presence] in Blood or Tissue by Molecular genetics methodL48580-5KCNQ1OT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48598-7BBS2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48599-5CLCN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48601-9OPA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48602-7TGM1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48728-0NCF1+NCF2+CYBB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48729-8CYBA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48732-2NCF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48733-0NCF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48781-9CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalL48969-0DCX gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48970-8ELN gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48971-6EYA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48972-4FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48975-7GPR143 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48976-5POLG gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48977-3SGCG gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48978-1CDKL5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL48979-9TSC1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL48980-7TSC2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49215-7PKHD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49504-4CMT demyelinating gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49506-9MYOC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49562-2Holoprosencephaly gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49678-6CPT2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49684-4CPT2 gene p.Arg503Cys [Presence] in Blood by Molecular genetics methodL49686-9CPT2 gene p.Arg631Cys [Presence] in Blood by Molecular genetics methodL49704-0SH3TC2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49705-7LMNA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49707-3KCNQ2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL49708-1TTR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49710-7SOD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49735-4FBN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49854-3COL5A1 gene+COL5A2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49872-5FH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49873-3POU3F4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL49874-1ABCB4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL50623-8AS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL50626-1DMD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL50994-3CMT demyelinating gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL51476-0ABCB4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL51652-6SLC14A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL51757-3POMT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL51758-1POMT2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL51759-9RAI1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL51772-2F9 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL51778-9YY1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL51779-7CFH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL52758-0SERPINE1 gene c.-844A>G [Presence] in Blood or Tissue by Molecular genetics methodL53620-1KRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method NominalL53623-5HRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method NominalL53722-5SLC26A4 gene p.Glu384Gly [Presence] in Blood by Molecular genetics methodL53723-3SLC26A4 gene.p.Leu236Pro [Presence] in Blood by Molecular genetics methodL53724-1SLC26A4 gene p.Thr416Pro [Presence] in Blood by Molecular genetics methodL53725-8SLC25A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53726-6KCNC3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53727-4SOS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53728-2WS2A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53732-4GCK gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53790-2CILD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53791-0PTPN11 gene mutations tier 1 found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53792-8PTPN11 gene mutations tier 3 found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53793-6RPS6KA3 gene mutations tier 1 found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53794-4RPS6KA3 gene mutations tier 2 found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53836-3ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53837-1ACVRL1 gene+ENG gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53840-5TGFB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53841-3ATRX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53847-0CACT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53849-6HTC2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53850-4HTC2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL53851-2COL10A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53852-0COL2A1 gene+COL11A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53853-8COL4A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53854-6CPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53855-3DNAI1+DNAH5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53856-1DYSF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53858-7EXT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53862-9FIG4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53863-7FLNA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53866-0GCH1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53867-8GYS2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53869-4HPRT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53870-2HPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53871-0HRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53873-6IRF6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53875-1LMX1B gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53876-9LRRK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53877-7NAGS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53883-5OCRL1 mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53884-3OTOF gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53887-6PCCA gene+PCCB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53888-4PHEX gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53890-0PLOD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53891-8PNKD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53894-2TRAPPC2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53895-9SH3BP2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53896-7SMC1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53897-5SPAST gene + KIAA0196 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL53898-3KIAA0196 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53900-7C10orf2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL53901-5USH2A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55139-0SCN5A gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55146-5Familial long QTS syndrome gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL55237-2HBA2 gene c.427T>C [Presence] in Blood by Molecular genetics methodL55238-0HBA2 gene c.429A>T [Presence] in Blood by Molecular genetics methodL55239-8HBB gene c.441_442insAC [Presence] in Blood by Molecular genetics methodL55240-6HBB gene c.251G>A [Presence] in Blood by Molecular genetics methodL55241-4HBB gene c.19G>A [Presence] in Blood by Molecular genetics methodL55242-2HBB gene c.20A>T [Presence] in Blood by Molecular genetics methodL55243-0HBB gene c.364G>C [Presence] in Blood by Molecular genetics methodL55245-5HBB gene c.220G>A [Presence] in Blood by Molecular genetics methodL55246-3HBA2 gene c.84G>C [Presence] in Blood by Molecular genetics methodL55247-1HBA1 gene c.223G>C [Presence] in Blood by Molecular genetics methodL55296-8CAV3 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodL55765-2EGFR gene c.2156G>C+2155G>A+2155G>T [Presence] in Blood or Tissue by Molecular genetics methodL55766-0EGFR gene c.2573T>G [Presence] in Blood or Tissue by Molecular genetics methodL55767-8EGFR gene c.2582T>A [Presence] in Blood or Tissue by Molecular genetics methodL55768-6EGFR gene c.2303G>T [Presence] in Blood or Tissue by Molecular genetics methodL55769-4EGFR gene c.2369C>T [Presence] in Blood or Tissue by Molecular genetics methodL55770-2EGFR gene exon 20 insertion [Presence] in Blood or Tissue by Molecular genetics methodL56142-3MPL gene p.Trp515Leu+Trp515Lys [Presence] in Blood or Tissue by Molecular genetics methodL56144-9CHIC2 gene 4q12 deletion in Blood or Tissue by FISHL56780-0CYP21A2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57308-9CYP11B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57309-7PRNP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57311-3CYP11B1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57312-1PRNP gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57314-7SRY gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57754-4TNFRSF13B gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57755-1WAS gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57757-7IKBKG gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL57909-4ADNFLE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57918-5CACNA1S+SCN4A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57927-6CDKN2A+CDK4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57951-6CPVT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57958-1DPYD2A gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodL57962-3FECH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57963-1FLCN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57983-9IDUA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL57990-4KRIT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58020-9PKD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL58044-9RYR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58045-6SCN4A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58902-8F12 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL58924-2LCT gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL58937-4F12 gene mutations found [Type] in Blood or Tissue by Molecular genetics methodL58938-2LCT gene mutations found [Type] in Blood or Tissue by Molecular genetics methodL58987-9ITGB3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL58988-7FGB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL59044-8ACE gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL59045-5ITGB3 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL59046-3FGB gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL59047-1F5 gene p.His1299Arg [Presence] in Blood or Tissue by Molecular genetics methodL59064-6PAX6 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodL59067-9ALAS2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL59068-7RPS19 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodL60486-8MED12 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60487-6NPHP1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60490-0UMOD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60491-8LCA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60492-6Hypertrophic cardiomyopathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60495-9MAP2K1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60496-7MAP2K2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60537-8CLCN5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL60540-2HBA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61106-116p11.2 chromosome region deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method NominalL61107-9SLC25A13 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61108-7Mitochondria DNA complex I targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61109-5Mitochondria DNA complex V targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61110-3ACSL4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61111-1Mitochondria tRNA targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61114-5Mitochondria DNA complex III targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61115-2Mitochondria DNA complex IV targeted mutation analysis in Blood or Tissue by Molecular genetics methodL61116-0Mitochondria rRNA targeted mutation analysis in Blood or Tissue by Molecular genetics methodL63438-6MAPT gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL66503-4APC gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL66874-9FMR1 gene activation in Blood by Molecular genetics methodL66875-6FMR1 gene methylation/methylated+unmethylated in Blood by Molecular genetics methodL66876-4FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics methodL68946-3SERPINA10 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL68947-1ATP1A2 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL69363-0SERPINA10 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL69364-8ATP1A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL69384-6AGXT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69478-6AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL69479-4BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69481-0ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL69482-8ENG gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69483-6F9 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69484-4FBN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69485-1LDLR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69486-9LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL69487-7TNFRSF13B gene full mutation analysis in Blood or Tissue by SequencingL69488-5TNFRSF13B gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL69489-3VHL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL70041-9FSHB gene c.-211G>T [Presence] in Blood or Tissue by Molecular genetics methodL70107-8SERPINC1 gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL70245-6PAH gene.p.Arg408Trp [Presence] in Blood or Tissue by Molecular genetics methodL70246-4CCR2 gene p.Val64Ile [Presence] in Blood or Tissue by Molecular genetics methodL70247-2CCR5 gene c.794_825del [Presence] in Blood or Tissue by Molecular genetics methodL70248-0GALT gene p.Gln188Arg [Presence] in Blood or Tissue by Molecular genetics methodL71355-2SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics methodL71357-8PDGFRA gene exon 18 targeted mutation analysis in Blood or Tissue by SequencingL71358-6GJB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL72309-8NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics methodL72310-6NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics methodL72333-8JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics methodL72334-6NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics methodL72335-3NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics methodL72336-1NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics methodL72487-2TF gene full mutation analysis in Blood or Tissue by SequencingL72503-6WT1 gene exon 1+2 transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics methodL72506-9ABCB1 gene c.3435C>T [Presence] in Blood or Tissue by Molecular genetics methodL72518-4CHEK2 gene c.470C>T and 1100delC [Identifier] in Blood or Tissue by Molecular genetics method NominalL72696-8SLC40A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL72872-5MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method NominalL72883-2CYP2E1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL73735-3ACADVL gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL73736-1ACADVL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL73748-6APOB gene p.Arg3500Gln and p.Arg3500Trp [Identifier] in Blood or Tissue by Molecular genetics method NominalL74004-3ABCB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL74511-7COMT gene c.1947G>A [Genotype] in Blood or Tissue by Molecular genetics method NominalL74692-5MT-ND6 gene m.14459G>A [Presence] in Blood or Tissue by Molecular genetics methodL74833-5ACAT1 gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL74834-3MARS2 gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL75009-1CEBPA gene full mutation analysis in Blood or Tissue by SequencingL75032-3CEBPA gene full mutation analysis in Bone marrow by SequencingL75033-1MPL gene mutations tested for in Bone marrow by Molecular genetics method NominalL75034-9NPM1 gene mutations found [Identifier] in Bone marrow by Molecular genetics method NominalL75380-6SERPING1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL75381-4TTR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75382-2ATP7B gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75386-3MEN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75387-1INS gene full mutation analysis in Blood or Tissue by SequencingL75388-9CDKN1B gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75389-7CDKN1B gene full mutation analysis in Blood or Tissue by SequencingL75390-5APP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL75391-3FGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics methodL75395-4AIP gene full mutation analysis in Blood or Tissue by SequencingL75396-2AIP gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75397-0HNF1A gene full mutation analysis in Blood or Tissue by SequencingL75398-8HNF1B gene full mutation analysis in Blood or Tissue by SequencingL75399-6HNF4A gene full mutation analysis in Blood or Tissue by SequencingL75400-2KCNJ11 gene full mutation analysis in Blood or Tissue by SequencingL75402-8GCDH gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL75403-6PDHA1 gene full mutation analysis in Blood or Tissue by SequencingL75726-0HTR2A gene c.-1438G>A [Presence] in Blood or Tissue by Molecular genetics methodL75728-6HTR2A gene c.74C>A [Presence] in Blood or Tissue by Molecular genetics methodL75729-4HTR2A gene c.1354C>T [Presence] in Blood or Tissue by Molecular genetics methodL75731-0HTR2A gene c.102T>C [Presence] in Blood or Tissue by Molecular genetics methodL76029-8HEXB gene full mutation analysis in Blood or Tissue by SequencingL76030-6IDS gene full mutation analysis in Blood or Tissue by SequencingL76032-2SGSH gene full mutation analysis in Blood or Tissue by SequencingL76034-8GAA gene full mutation analysis in Blood or Tissue by SequencingL76035-5ARSA gene full mutation analysis in Blood or Tissue by SequencingL76036-3GLA gene full mutation analysis in Blood or Tissue by SequencingL76063-7MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL76065-26p25 and 6q23 and 11q and 8q24 and 9p21 chromosome partial aneuploidy in Blood or Tissue by FISHL76068-6MBL2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL77017-2CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDIL77043-8ACAD8 gene full mutation analysis in Blood or Tissue by SequencingL77044-6ACAD8 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77045-3ACADSB gene full mutation analysis in Blood or Tissue by SequencingL77046-1ACADSB gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77047-9ACSF3 gene full mutation analysis in Blood or Tissue by SequencingL77048-7ACSF3 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77049-5SUGCT gene full mutation analysis in Blood or Tissue by SequencingL77050-3SUGCT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77051-1IFITM5 gene full mutation analysis in Blood or Tissue by SequencingL77052-9IFITM5 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77053-7MTR gene full mutation analysis in Blood or Tissue by SequencingL77054-5MTR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77055-2CYP11B1 gene full mutation analysis in Blood or Tissue by SequencingL77056-0CYP11B1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77057-8CYP17A1 gene full mutation analysis in Blood or Tissue by SequencingL77058-6CYP17A1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77059-4GNMT gene full mutation analysis in Blood or Tissue by SequencingL77060-2GNMT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77061-0HPD gene full mutation analysis in Blood or Tissue by SequencingL77062-8HPD gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77063-6TAT gene full mutation analysis in Blood or Tissue by SequencingL77064-4TAT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77065-1AHCY gene full mutation analysis in Blood or Tissue by SequencingL77066-9AHCY gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77067-7SEPT9 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL77069-3AGA gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77070-1PLOD2 gene full mutation analysis in Blood or Tissue by SequencingL77071-9PLOD2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77072-7ATP5A1 gene full mutation analysis in Blood or Tissue by SequencingL77073-5ATP5A1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77074-3C12orf65 gene full mutation analysis in Blood or Tissue by SequencingL77075-0C12orf65 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77076-8MRPL40 gene full mutation analysis in Blood or Tissue by SequencingL77077-6MRPL40 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77078-4MTFMT gene full mutation analysis in Blood or Tissue by SequencingL77079-2MTFMT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77080-0SERPINF1 gene full mutation analysis in Blood or Tissue by SequencingL77081-8SERPINF1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77082-6FARS2 gene full mutation analysis in Blood or Tissue by SequencingL77083-4FARS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77085-9ALPL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77086-7TYROBP gene full mutation analysis in Blood or Tissue by SequencingL77087-5TYROBP gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77088-3GFM1 gene full mutation analysis in Blood or Tissue by SequencingL77089-1GFM1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77090-9TFB1M gene full mutation analysis in Blood or Tissue by SequencingL77091-7TFB1M gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77092-5MRRF gene full mutation analysis in Blood or Tissue by SequencingL77093-3MRRF gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77094-1MRPS2 gene full mutation analysis in Blood or Tissue by SequencingL77095-8MRPS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77096-6MRPS22 gene full mutation analysis in Blood or Tissue by SequencingL77097-4MRPS22 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77098-2MRPL44 gene full mutation analysis in Blood or Tissue by SequencingL77099-0MRPL44 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77100-6MRPL18A gene full mutation analysis in Blood or Tissue by SequencingL77101-4MRPL18A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77102-2NARS2 gene full mutation analysis in Blood or Tissue by SequencingL77103-0NARS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77104-8HARS2 gene full mutation analysis in Blood or Tissue by SequencingL77105-5HARS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77106-3SARS2 gene full mutation analysis in Blood or Tissue by SequencingL77107-1SARS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77108-9AARS2 gene full mutation analysis in Blood or Tissue by SequencingL77109-7AARS2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77110-5KARS gene full mutation analysis in Blood or Tissue by SequencingL77111-3KARS gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77112-1PLOD3 gene full mutation analysis in Blood or Tissue by SequencingL77113-9PLOD3 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77115-4FKBP10 gene full mutation analysis in Blood or Tissue by SequencingL77116-2FKBP10 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77117-0RPGRIP1 gene full mutation analysis in Blood or Tissue by SequencingL77118-8RPGRIP1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77119-6RPGR gene full mutation analysis in Blood or Tissue by SequencingL77120-4RPGR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77121-2DFNB31 gene full mutation analysis in Blood or Tissue by SequencingL77122-0DFNB31 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77123-8GPR98 gene full mutation analysis in Blood or Tissue by SequencingL77124-6GPR98 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77125-3PCDH15 gene full mutation analysis in Blood or Tissue by SequencingL77127-9USH1C gene full mutation analysis in Blood or Tissue by SequencingL77128-7USH1C gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77129-5CERKL gene full mutation analysis in Blood or Tissue by SequencingL77130-3CERKL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77131-1CDHR1 gene full mutation analysis in Blood or Tissue by SequencingL77132-9CDHR1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77133-7LCA5 gene full mutation analysis in Blood or Tissue by SequencingL77134-5LCA5 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL77170-9PDGFRA gene p.Asp842Val [Presence] in Blood or Tissue by Molecular genetics methodL77624-5SMAD4 gene full mutation analysis in Blood or Tissue by SequencingL77625-2ENG gene full mutation analysis in Blood or Tissue by SequencingL77627-8HBB gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL77628-6PSEN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77629-4PARK7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77630-2ALS2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77631-0VAPB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77632-8ANG gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77633-6TARDBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77634-4FUS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77748-2PCDH15 gene c.733C>T [Presence] in Blood or Tissue by Molecular genetics methodL78378-7PON1 gene c.575A>G [Presence] in Blood or Tissue by Molecular genetics methodL78382-9CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF NominalL79164-0CES1 gene c.428G>A [Presence] in Blood or Tissue by Molecular genetics methodL79207-7BRCA1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL79208-5BRCA2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL79568-2ABCD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL79571-6BCHE gene full mutation analysis in Blood or Tissue by SequencingL80186-0JAK2 gene exon 12 targeted mutation analysis in Bone marrow by Molecular genetics methodL80187-8JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL80188-6JAK2 gene exon 14 targeted mutation analysis in Bone marrow by Molecular genetics methodL80715-6FSHR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL81422-8GATA1 gene exon 2 targeted mutation analysis in Blood or Tissue by SequencingL81812-0TPP1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81813-8F11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81814-6HSD17B4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81815-3CTNS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81816-1OPA3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81817-9MPI gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81818-7PMM2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81819-5CLN5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81820-3ASS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81821-1RMRP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81822-9BBS10 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81823-7SACS gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81824-5SLC12A6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81825-2MAN2B1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81826-0HGD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81827-8CNGB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81828-6SLC37A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81829-4SDHA gene full mutation analysis in Blood or Tissue by SequencingL81830-2AGL gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81831-0LAMB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81832-8SLC26A2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81833-6ALDH3A2 gene full mutation analysis in Blood or Tissue by SequencingL81834-4SLC17A5 gene full mutation analysis in Blood or Tissue by SequencingL81835-1PEX7 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81836-9CTSK gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81837-7GRHPR gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81838-5PEX1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81839-3CLN8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81840-1POMGNT1 gene full mutation analysis in Blood or Tissue by SequencingL81841-9MLC1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81842-7BCKDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81843-5GALC gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81844-3IVD gene full mutation analysis in Blood or Tissue by SequencingL81845-0PALB2 gene full mutation analysis in Blood or Tissue by SequencingL81854-2CYP21A2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81857-5GDAP1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81858-3GJB1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81859-1GRN gene full mutation analysis in Blood or Tissue by SequencingL81860-9Hypertrophic cardiomyopathy gene targeted mutation analysis in Blood or Tissue by SequencingL81863-3KCNH2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81864-1KCNQ1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81865-8MYBPC3 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81866-6MYH7 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81867-4NOTCH3 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81868-2PRNP gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL81869-0PRNP gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81870-8PSEN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81871-6PSEN2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81872-4SCN5A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81874-0SLC12A3 gene full mutation analysis in Blood or Tissue by SequencingL81875-7SPAST gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81877-3SPG3A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81878-1Subtelomere analysis in Blood or Tissue by Molecular genetics methodL81880-7TNNT2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81881-5TNNT3 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL81882-3TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL81884-9NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by SequencingL82137-1FGFR3 gene p.Gly380Arg targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics methodL82138-9GJB2 gene c.35delG targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82139-7LRRK2 gene Arg1441Gly and Gly2019Ser targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82515-8NBN gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82516-6LAMC2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82517-4LAMA3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82518-2IVD gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL82528-1VHL gene full mutation analysis in Blood or Tissue by SequencingL82529-9SDHD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL82530-7SDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL82531-5SDHC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL82533-1VHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL82535-6KRAS gene full mutation analysis in Blood or Tissue by SequencingL82536-4SOS1 gene full mutation analysis in Blood or Tissue by SequencingL82537-2RAF1 gene full mutation analysis in Blood or Tissue by SequencingL82538-0CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics methodL85039-6JAK2 gene.p.Val617Phe mutant/Normal in Bone marrow by Molecular genetics methodL85091-7HBA2 gene alpha 3.7kb triplication [Presence] in Blood by Molecular genetics methodL85100-6FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics methodL85101-4BRAF gene p.Val600Glu [Presence] in Bone marrow by Molecular genetics methodL85383-8EGFR gene c.2369C>T actual/normal in Plasma cell-free DNA by Molecular genetics methodL85506-4PTEN gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method NominalL85507-2PIK3CA gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method NominalL85509-8KRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method NominalL85510-6NRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method NominalL85511-4BRAF gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method NominalL89323-0APOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL89861-9BRAF gene p.Val600Lys [Presence] in Tissue by Molecular genetics methodL89997-1SUMF1 gene full mutation analysis in Blood or Tissue by SequencingL90256-9CFTR gene full mutation analysis in Blood or Tissue by SequencingL90258-5LDLR gene full mutation analysis in Blood or Tissue by SequencingL90259-3NAT2 gene full mutation analysis in Blood or Tissue by SequencingL90743-6CYBB gene full and NCF1 gene c.75_76delGT analysis in Blood or Tissue by Molecular genetics methodL90851-7GJB2 gene full mutation analysis in Blood or Tissue by SequencingL91672-6ABCB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL91681-7F9 gene mutation analysis limited to known familial mutations in Amniotic fluid or Chorionic villus sample by Molecular genetics methodL91712-0F5 gene c.1691G>A [Genotype] in Blood or Tissue by Molecular genetics method NominalL92674-1CSF3R gene exons 14 and 17 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL92843-2FLT3 gene p.Asp835 mutations [Presence] in Blood or Tissue by Molecular genetics methodL92844-0FLT3 gene internal tandem duplication/Normal [Ratio] in Blood or Tissue by Molecular genetics methodL92932-3KIF6 gene.c.2155T>C [Genotype] in Blood or Tissue by Molecular genetics method NominalL92933-19p21 g.22125503G>C [Genotype] in Blood or Tissue by Molecular genetics method NominalL92934-99p21 g.22124478A>G [Genotype] in Blood or Tissue by Molecular genetics method NominalL92935-64q25 g.111720761T>G [Genotype] in Blood or Tissue by Molecular genetics method NominalL92936-44q25 g.111710169C>T [Genotype] in Blood or Tissue by Molecular genetics method NominalL93690-6BRAF gene V600 mutations [Identifier] in Plasma cell-free DNA by Molecular genetics method NominalL93842-3HOGA1 gene full mutation analysis in Blood or Tissue by SequencingL94076-7Mutations/Megabase [# Ratio] in TumorL94077-5Tumor mutation burden [Interpretation]L94078-3PDX1 gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL94079-1TYMP gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL94080-9RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing NominalL94470-2VEGFA gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL94471-0VEGFA gene c.-1154A>G [Genotype] in Blood or Tissue by Molecular genetics method NominalL94472-8VEGFA gene c.-1498C>G and c.-1498C>T [Genotype] in Blood or Tissue by Molecular genetics method NominalL94473-6VEGFA gene c.-2578A>C and c.-2578A>T [Genotype] in Blood or Tissue by Molecular genetics method NominalL94474-4VEGFA gene c.-634C>G [Genotype] in Blood or Tissue by Molecular genetics method NominalL94716-8AGTR1 gene c.1166A>C [Genotype] in Blood by Molecular genetics method NominalL94717-6SLC25A15 gene c.562_564delTTC [Genotype] in Blood or Tissue by Molecular genetics method NominalL95274-7DNM2 gene full mutation analysis in Blood or Tissue by SequencingL95275-4FGD4 gene full mutation analysis in Blood or Tissue by SequencingL95276-2GARS gene full mutation analysis in Blood or Tissue by SequencingL95277-0GJB1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL95278-8HSPB1 gene full mutation analysis in Blood or Tissue by SequencingL95279-6HSPB8 gene full mutation analysis in Blood or Tissue by SequencingL95280-4MTMR2 gene full mutation analysis in Blood or Tissue by SequencingL95281-2NDRG1 gene full mutation analysis in Blood or Tissue by SequencingL95285-3RAB7A gene full mutation analysis in Blood or Tissue by SequencingL95286-1SBF2 gene full mutation analysis in Blood or Tissue by SequencingL95287-9TRPV4 gene full mutation analysis in Blood or Tissue by SequencingL95288-7YARS gene full mutation analysis in Blood or Tissue by SequencingL95550-0ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics methodL95555-9F7 gene p.Arg353Gln [Genotype] in Blood or Tissue by Molecular genetics method NominalL96964-2EZH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL96965-9CARD11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL96966-7CD79A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL96967-5CD79B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL96968-3TNFAIP3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL96969-1MYD88 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL97025-1BRAF gene V600 mutations [Identifier] in Tissue by Molecular genetics method NominalL99057-2SLC12A1 gene full mutation analysis in Blood by Molecular genetics methodL99058-0DHCR7 gene full mutation analysis in Blood or Tissue by SequencingL99126-5NOTCH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL99127-3BIRC3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL99128-1PLCG2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL99129-9SF3B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL