MOLPATH
Laboratory654 LOINC codes in this class
48820-5Karyotype [Identifier] in Cord blood NominalL64431-0KIR3DP1 gene full variant [Presence] in Blood or Tissue by Molecular genetics methodL64432-8KIR3DP1 gene deletion variant [Presence] in Blood or Tissue by Molecular genetics methodL64430-2KIR gene allele 2DP1 [Presence] in Blood or Tissue by Molecular genetics methodL64429-4KIR gene allele 3DS1 [Presence] in Blood or Tissue by Molecular genetics methodL64428-6KIR gene allele 3DL3 [Presence] in Blood or Tissue by Molecular genetics methodL64427-8KIR gene allele 3DL2 [Presence] in Blood or Tissue by Molecular genetics methodL64426-0KIR gene allele 3DL1 [Presence] in Blood or Tissue by Molecular genetics methodL64425-2KIR gene allele 2DS5 [Presence] in Blood or Tissue by Molecular genetics methodL64422-9KIR gene allele 2DS3 [Presence] in Blood or Tissue by Molecular genetics methodL64420-3KIR gene allele 2DS1 [Presence] in Blood or Tissue by Molecular genetics methodL64419-5KIR gene allele 2DL5 [Presence] in Blood or Tissue by Molecular genetics methodL64416-1KIR gene allele 2DL4 [Presence] in Blood or Tissue by Molecular genetics methodL64415-3KIR gene allele 2DL3 [Presence] in Blood or Tissue by Molecular genetics methodL64414-6KIR gene allele 2DL2 [Presence] in Blood or Tissue by Molecular genetics methodL64413-8KIR gene allele 2DL1 [Presence] in Blood or Tissue by Molecular genetics methodL64085-4Cells karyotyped.total [#] in Chorionic villus sampleL64424-5KIR2DS4 gene deletion variant [Presence] in Blood or Tissue by Molecular genetics methodL35457-1Maternal cell contamination [Identifier] in Amniotic fluid NominalL76545-3Breast cancer 10-year risk of distant recurrence classification [Interpretation] Qualitative by ProsignaL79419-8PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL86206-0Whole genome sequence analysis in Blood or Tissue by Molecular genetics methodL76544-6Breast cancer 10-year risk of distant recurrence score Calculated by ProsignaL64087-0ISCN band level [#] in Chorionic villus sample Qualitative by Molecular genetics methodL64423-7KIR2DS4 gene full variant [Presence] in Blood or Tissue by Molecular genetics methodL64089-6Cells counted [#] in Chorionic villus sample by Molecular genetics methodL64086-2Cells analyzed [#] in Chorionic villus sample by Molecular genetics methodL85318-4ERBB2 gene duplication [Presence] in Breast cancer specimen by FISHL75018-2t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics methodL72827-9dic(9;20)(p11-13;q11)(wcp9+,wcp20+) [Identifier] in Blood or Tissue by FISH NominalL58416-9MLH1 gene methylation [Presence] in Blood or Tissue by Molecular genetics methodL40704-9Maternal cell contamination [Identifier] in Blood NominalL34976-1DNA index 2 in Specimen by Flow cytometry (FC)L64088-8Karyotype [Identifier] in Chorionic villus sample NarrativeL77200-4SI gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL59267-5Karyotype [Identifier] in Blood or Tissue by FISH NarrativeL57781-7Chromosome breakage [Identifier] in Blood by Diepoxybutane NarrativeL49040-9Subtelomere analysis [Interpretation] in Blood or Tissue by FISH NarrativeL30912-0DNA index in Specimen by Flow cytometry (FC)L49039-1Subtelomere analysis [Identifier] in Blood or Tissue by FISH NominalL59585-0GSTP1 gene+APC gene methylation [Presence] in Tissue by Molecular genetics methodL19102-3Genetic screen in Specimen by Molecular genetics method NarrativeL48684-5X and Y chromosome [Interpretation] in Blood or Marrow by FISH--post bone marrow transplantL75693-2Fetal sex in Plasma cell-free DNA by Dosage of chromosome specific cell free (cf) DNAL75668-4Fetal sex [Likelihood] in Plasma cell-free DNA by Dosage of chromosome specifi cell free (cf) DNAL34742-7Chromosome breakage [Units/volume] in Blood by DiepoxybutaneL30913-8S-phase cells/cells in Specimen by Flow cytometry (FC)L62370-2FISH probe gene name [Identifier] in Laboratory deviceL64083-9MGMT gene methylation score in Tissue by Molecular genetics methodL62371-0FISH probe locus [Identifier] in Laboratory deviceL57317-0Chromosome 13+18+21+X+Y aneuploidy in Amniotic fluid or Chorionic villus sample by FISH NominalL59562-9DNA index by Automated image cytometryL64090-4Chromosome analysis overall interpretation in Specimen Qualitative by Molecular genetics methodL74861-6Chromosome 17 copy number/nucleus in Tissue by FISHL64096-1Colonies counted [#] in Amniotic fluid by Molecular genetics methodL64093-8ISCN band level [#] in Amniotic fluid Qualitative by Molecular genetics methodL64092-0Cells analyzed [#] in Amniotic fluid by Molecular genetics methodL64094-6Karyotype [Identifier] in Amniotic fluid NarrativeL79570-8MLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL64091-2Cells karyotyped.total [#] in Amniotic fluidL50684-0Chromosome analysis.interphase [Interpretation] in Blood by FISH NarrativeL43368-0Microsatellite instability [Identifier] in Tissue by Molecular genetics method NominalL75606-4Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeL64095-3Cells counted [#] in Amniotic fluid by Molecular genetics methodL69362-2PCA3 score in Urine Qualitative by Molecular genetics methodL48818-9Karyotype [Identifier] in Blood or Tissue by High resolution NominalL74860-8ERBB2 gene copy number/nucleus in Tissue by FISHL48674-6Genetic diseases [Identifier] in Blood or Tissue by FISH NominalL77174-1CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL55193-7Chromosome analysis.interphase [Interpretation] in Chorionic villus sample by FISH NarrativeL31150-6ERBB2 gene duplication [Presence] in Tissue by FISHL95795-1HBG1 and HBG2 genes full mutation analysis in Blood or Tissue by SequencingL63043-4Nuclei scored in TissueL69361-4PCA3 score in Urine by Molecular genetics methodL56030-0Karyotype [Identifier] in Urine by FISH NarrativeL48819-7Karyotype [Identifier] in Tissue from Fetus NominalL81258-6Sample variant allelic frequency [NFr]L55192-9Chromosome analysis.interphase [Interpretation] in Amniotic fluid by FISH NarrativeL73821-1Fetal Chromosome X and Y aneuploidy risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNAL79102-0Heart transplant acute cellular rejection risk [Score] in Mononuclear cells Calculated by AlloMapL30917-9DNA ploidy [Interpretation] in Specimen by Flow cytometry (FC) NarrativeL59050-5Chromosome analysis.interphase [Interpretation] in Specimen by FISH NarrativeL33774-1Karyotype [Identifier] in Chorionic villus sample NominalL34730-2Chromosome breakage [Interpretation] in SpecimenL57318-8Chromosome 13+18+21+X+Y aneuploidy in Blood or Tissue by FISH NominalL76664-2Fetal Chromosome X and Y aneuploidy [interpretation] based on dosage of chromosome-specific cell-free DNA in Maternal plasmaL55199-4Cells karyotyped.total [#] in Blood or TissueL64421-1KIR gene allele 2DS2 [Presence] in Blood or Tissue by Molecular genetics methodL73977-1Cancer related multigene analysis in Blood or Tissue by Molecular genetics methodL77021-4Fetal Y chromosome [Presence] based on Plasma cell-free DNA by SequencingL77020-6Fetal Y chromosome [Interpretation] based on Plasma cell-free DNA by SequencingL49683-6ERBB2 gene copy number/Chromosome 17 copy number in Tissue by FISHL73822-9Chromosome X and Y aneuploidy in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NominalL33773-3Karyotype [Identifier] in Amniotic fluid NominalL86205-2Whole exome sequence analysis in Blood or Tissue by Molecular genetics methodL75605-6Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNAL33893-9Karyotype [Identifier] in Bone marrow NominalL82939-0Genetic variant details in Blood or Tissue by Molecular genetics method NarrativeL59266-7Maternal cell contamination [Identifier] in Specimen NominalL50619-6Karyotype [Identifier] in Blood or Tissue NarrativeL69965-2Clinical cytogeneticist review of resultsL87730-8HBA1 and HBA2 gene full mutation analysis in Blood or Tissue by SequencingL35129-6Karyotype [Identifier] in Specimen NominalL65810-4SEPT9 gene methylation [Presence] in Plasma by Molecular genetics methodL55149-9BCR-ABL1 e1a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics methodL29770-5Karyotype [Identifier] in Blood or Tissue NominalL77353-1Noninvasive colorectal cancer DNA and occult blood screening [Interpretation] in Stool NarrativeL57802-1Chromosome analysis.interphase [Interpretation] in Blood or Marrow by FISH NarrativeL48672-0Clinical cytogeneticist [Identifier] in SpecimenL50659-2Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH NarrativeL77354-9Noninvasive colorectal cancer DNA and occult blood screening [Presence] in StoolL100029-8Cancer related multigene analysis in Plasma cell-free DNA by Molecular genetics methodL100213-8Prostate cancer multigene analysis in Blood or Tissue by Molecular genetics methodL100670-9RHD gene allele [Identifier] in Plasma cell-free DNA Nominal--fetusL100694-9SMN1 gene silent carrier analysis [Presence] in Blood or Tissue by Molecular genetics methodL100695-6Genetic disease analysis overall carrier interpretation in Blood or Tissue by Molecular genetics method NarrativeL100717-8FCGR3A gene.p.Phe176Val [Presence] in Blood or Tissue by Molecular genetics methodL100754-1Platelet disorders multigene analysis in Blood or Tissue by SequencingL100761-6PALB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL101152-7Mitochondria whole genome analysis in Blood or Tissue by Molecular genetics methodL101377-0inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript in Blood or Marrow by Molecular genetics methodL101378-8Lung cancer targeted gene fusion transcript analysis in Tissue by SequencingL101381-2BAP1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL101382-0FH gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL101384-6MYC gene amplification in Tissue by FISHL101385-3NF1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL101386-1RET gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL101387-9HBA1 and HBA2 gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101388-7GP1BB full mutation analysis in Blood or Tissue by Molecular genetics methodL101389-5GP1BA gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101390-3GP9 gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101391-1PAH gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101392-9ADA gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101393-7CLCN7 gene full mutation analysis in Blood or Tissue by Molecular genetics methodL101394-5Sex [Type] in Embryo by Molecular genetics methodL101396-0Preimplantation multigene analysis in Embryo by Molecular genetics methodL101397-8Copy number variation analysis in Blood or Tissue by SequencingL101537-9AGA gene [Interpretation] in SerumL101540-3AGA gene [Likelihood] in Serum by CalculationL101545-2FCGR3A gene.p.Phe158 [Identifier] in Blood by Molecular genetics method NominalL101546-0FCGR3A gene.p.Val158 [Identifier] in Blood by Molecular genetics method NominalL101641-9Myeloid sarcoma analysis in Blood or Tissue by FISHL101651-8MYC and BCL2 rearrangements in Tissue by FISHL101663-3T-Cell acute lymphoblastic leukemia in Blood or Tissue by FISHL101664-1in Blood or Tissue by FISHL101671-6Hereditary Wilms tumor multigene analysis in Blood or Tissue by Molecular genetics methodL101787-0B-cell lymphoma chromosome analysis in Tissue by FISHL101906-6Noninvasive esophageal cancer DNA and esophageal cell screening [Presence] in Esophagus by SequencingL102039-5MET gene amplification in Blood or Tissue by MolgenL102091-6HBA1 and HBA2 gene full mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics methodL102099-9B-cell acute lymphocytic leukemia in Blood or Tissue by FISHL102100-5B-cell acute lymphoblastic leukemia in Blood or Tissue by FISHL103142-6Cell-free DNA.donor/Cell-free DNA.total in Blood by Sequencing --post transplantL103143-4Genetic disease DNA and RNA analysis [Presence] in Blood or Tissue by Molecular genetics methodL103151-7Kidney transplant acute cellular rejection risk [Score] in Plasma cell-free DNA by Calculated by AlloMapL103154-1Single nucleotide polymorphisms.recipient derived cf.dna/Single nucleotide polymorphisms.total cf dna in Plasma cell-free DNA by Sequencing --post bone marrow transplantL103155-8Single nucleotide polymorphisms.donor derived cf.dna/Single nucleotide polymorphisms.total cf dna in Blood from DonorL103556-7PLA2G7 and PLAC8 gene expression level [Score] in Blood by Molecular genetics methodL103566-6Metagenomic DNA and RNA SequencingL103677-1HMEP-Hemiplegic migraine multigene analysis in Blood or Tissue by Molecular genetics methodL103678-9CTNNB1 gene targeted mutation analysis in Tumor by Molecular genetics methodL103680-5TP53 gene full mutation analysis in Blood or Tissue by Molecular genetics methodL103714-2Karyotype [Identifier] in Tissue from Fetus NarrativeL103727-4Hereditary Motor Neuropathy multigene analysis in Blood or Tissue by Molecular genetics methodL103728-2Hereditary motor and sensory neuropathy multigene analysis in Blood or Tissue by Molecular genetics methodL103729-0Hereditary sensory neuropathy multigene analysis in Blood or Tissue by Molecular genetics methodL103730-8Hereditary spastic paraplegia multigene analysis in Blood or Tissue by Molecular genetics methodL103731-6Distal weakness multigene analysis in Blood or Tissue by Molecular genetics methodL103732-4Hereditary congenital myasthenic syndrome multigene analysis in Blood or Tissue by Molecular genetics methodL103733-2Hereditary emery dreifuss multigene analysis in Blood or Tissue by Molecular genetics methodL103734-0Dyserythropoietic anemia multigene analysis in Specimen by SequencingL103735-7Erythrocytosis multigene analysis in Specimen by SequencingL103736-5Erythrocytosis focused multigene analysis in Specimen by SequencingL103737-3CYB5 and CYB5 Reductase multigene analysis in Specimen by SequencingL103738-1RBC membrane multigene analysis in Specimen by SequencingL103739-9EBV Lymphoproliferation multigene analysis in Blood or Tissue by Molecular genetics methodL103740-7Hyper igE syndrome multigene analysis in Specimen by Molecular genetics methodL103741-5Dysregulation autoimmune multigene analysis in Specimen by Molecular genetics methodL103742-3Viral Susceptibility multigene analysis in Specimen by Molecular genetics methodL103743-1Autoimmune lymphoproliferative syndrome multigene analysis in Specimen by Molecular genetics methodL103843-9Tripartite motif containing 46 [Presence] in Specimen by ImmunofluorescenceL104062-5HISGT Histone genes targeted mutation analysis in Tumor by Molecular genetics methodL104119-3Breast Cancer recurrence risk multigene analysis in Tissue by Molecular genetics methodL104167-2TRCA+TCRD gene rearrangements in Bone marrow by FISHL104168-0TCL-1A gene rearrangements in Bone marrow by FISHL104169-8D13S319 deletion in Bone marrow by FISHL104238-1Chronic and low grade B cell lymphoid neoplasm multigene analysis in Blood or Tissue by Molecular genetics methodL104239-9B cell non hodgkin Lymphoma multigene analysis in Blood or Tissue by Molecular genetics methodL104240-7Histiocytic neoplasm multigene analysis in Blood or Tissue by Molecular genetics methodL104241-5Plasma cell myeloma multigene analysis in Bone marrow by Molecular genetics methodL104242-3T cell lymphoma multigene analysis in Blood or Tissue by Molecular genetics methodL104271-2Primer set [Identifier] in Specimen by Molecular genetics methodL104274-6Abnormal clonal sequences [Nucleotide sequence] in Specimen by Molecular genetics method NominalL104289-4Chromosome 5 and 9 and 15 aneuploidy in Bone marrow by FISHL104291-0KIT gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104292-8PDGFRA gene mutations tested for in Blood or Tissue by Molecular genetics method NominalL104295-1ESR1 gene mutation [Identifier] in Blood or Tissue by Molecular genetics method NominalL104296-9DPYD gene.c.1905+1G>A [Presence] in Blood or Tissue by Molecular genetics methodL104300-9UGT1A9 gene.p.M33T [Presence] in Blood or Tissue by Molecular genetics methodL104301-7UGT1A9 gene.c.-2152C>T [Presence] in Blood or Tissue by Molecular genetics methodL104321-5CXCR4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL104323-1IDH1 and IDH2 gene full mutation analysis in Blood or Tissue by Molecular genetics methodL104619-2Spermatozoa.abnormal chromatin in Semen by Flow cytometry (FC)L104620-0DNA fragmentation index in Semen by Flow cytometry (FC)L104621-8High DNA stainability in Semen by Flow cytometry (FC)L104664-8APOL1 [Genotype] in Blood, Tissue or Saliva by Molecular genetics method NominalL104665-5DPYD Activity Score in Blood or TissueL104666-3CYP2B6 Activity Score in Blood or TissueL104667-1CYP2C19 Activity Score in Blood or TissueL104668-9CYP2C9 Activity Score in Blood or TissueL104669-7CYP2D6 Activity Score in Blood or TissueL104936-0Noninvasive colorectal cancer RNA and occult blood screening [Presence] in StoolL105127-5Offspring or Inheritance risk [Likelihood] in Newborn by Molecular genetics method NarrativeL105197-8Hereditary nonpolyposis colorectal cancer multigene analysis in Blood or Tissue by Molecular genetics methodL105198-6Marfan and related conditions multigene analysis in Blood or Tissue by Molecular genetics methodL105199-4Noonan syndrome and related conditions multigene analysis in Blood or Tissue by Molecular genetics methodL105259-6Hereditary multigene analysis in Blood or Tissue by Molecular genetics methodL105260-4Cystinuria multigene analysis in Blood or Tissue by Molecular genetics methodL105261-2Glycogen storage disease multigene analysis in Blood or Tissue by Molecular genetics methodL105262-0Ketone disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105263-8Lysosomal storage disease multigene analysis in Blood or Tissue by Molecular genetics methodL105264-6Peroxisomal disorder multigene analysis in Blood or Tissue by Molecular genetics methodL105265-3Phenylalanine disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105266-1Tyrosine disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105267-9Urea cycle disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105329-7Hereditary angioedema multigene analysis in Blood by Molecular genetics methodL105330-5Hereditary bleeding disorders multigene analysis in Specimen by Molecular genetics methodL105331-3Hereditary bleeding disorders factor and von Willebrand multigene analysis in Specimen by Molecular genetics methodL105332-1MYH9 gene full mutation analysis in Blood by Molecular genetics methodL105333-9Hereditary platelet function defect multigene analysis in Blood by Molecular genetics methodL105334-7Hereditary platelet disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105335-4Hereditary platelet storage pool deficiency multigene analysis in Blood by Molecular genetics methodL105336-2Hereditary thrombosis disorders multigene analysis in Blood by Molecular genetics methodL105337-0VWF and GP1BA gene mutation analysis in Specimen by Molecular genetics methodL105341-22-Hydroxyglutarate aciduria multigene analysis in Blood or Tissue by Molecular genetics methodL105342-03-Methylglutaconate aciduria multigene analysis in Blood or Tissue by Molecular genetics methodL105343-8Acute myeloid Leukemia multigene analysis in Blood or Tissue by Molecular genetics methodL105344-6Acute porphyria multigene analysis in Blood or Tissue by Molecular genetics methodL105345-3Cholestasis multigene analysis in Blood or Tissue by Molecular genetics methodL105346-1Glycosylation congenital disorders multigene analysis in Blood or Tissue by Molecular genetics methodL105347-9Methylmalonate aciduria multigene analysis in Blood or Tissue by Molecular genetics methodL105348-7Methylmalonate aciduria-propionic aciduria multigene analysis in Blood or Tissue by Molecular genetics methodL105349-5Neuronal ceroid lipofuscinosis multigene analysis in Blood or Tissue by Molecular genetics methodL105350-3Porphyria multigene analysis in Blood or Tissue by Molecular genetics methodL105351-1Hereditary erythrocytosis multigene analysis in Blood or Tissue by Molecular genetics methodL105352-9Congenital lactic acidosis multigene analysis in Blood or Tissue by Molecular genetics methodL105353-7Fatty acid oxidation multigene analysis in Blood or Tissue by Molecular genetics methodL105354-5Glutarate aciduria 2 multigene analysis in Blood or Tissue by Molecular genetics methodL105355-2Maple syrup urine disease multigene analysis in Blood or Tissue by Molecular genetics methodL105524-3Tripartite motif containing 46 IgG Ab [Presence] in Cerebral spinal fluid by ImmunofluorescenceL105525-0Tripartite motif containing 46 IgG Ab [Presence] in Serum or Plasma by ImmunofluorescenceL105526-8Tripartite motif containing 46 IgG Ab [Titer] in Cerebral spinal fluid by ImmunofluorescenceL105527-6Tripartite motif containing 46 IgG Ab [Titer] in Serum or Plasma by ImmunofluorescenceL105585-4DICER1 gene full mutation analysis in Tissue by Molecular genetics methodL105586-2H3C14 gene targeted mutation analysis in Tissue by Molecular genetics methodL105587-0IDH1 and IDH2 genes and TERT genes targeted mutation analysis in Tissue by Molecular genetics methodL105588-8Adult type diffuse glioma gene targeted mutation analysis in Tissue by Molecular genetics methodL105589-6Bladder and Prostate cancer multigene analysis in Tissue by Molecular genetics methodL105590-4Endometrial carcinoma multigene analysis in Tissue by Molecular genetics methodL105591-2Renal cell carcinoma fibromyomatous stroma multigene analysis in Tissue by Molecular genetics methodL105592-0Gynecological carcinoma multigene analysis in Tissue by Molecular genetics methodL105593-8Renal cell carcinoma multigene analysis in Tissue by Molecular genetics methodL105594-6Ovarian, fallopian tube and peritoneal carcinoma multigene analysis in Tissue by Molecular genetics methodL105595-3MYOD1 targeted gene mutation analysis in Tissue by Molecular genetics methodL105596-1NTRK1 and NTRK2 and NTRK3 targeted gene mutation analysis in Tissue by Molecular genetics methodL105597-9POLE targeted gene mutation analysis in Tissue by Molecular genetics methodL105598-7SDHA and SDHB and SDHC and SDHD targeted gene mutation analysis in Tissue by Molecular genetics methodL105603-5Lung cancer screening [Presence] based on Plasma cell-free DNA by SequencingL105941-9Multiple myeloma minimal residual disease analysis [Presence] in Bone marrow by NAA with non-probe detectionL106052-4Postmortem aortopathy multigene analysis in Blood or Tissue by Molecular genetics methodL106128-2HBG1 gene mutation analysis in Blood or Tissue by Molecular genetics methodL106129-0HBG2 gene mutation analysis in Blood or Tissue by Molecular genetics methodL106519-2t(14;19)(q32;q13) (IGH, BCL3) in Blood or Marrow Qualitative by FISHL106532-5Laminin 332 IgG Ab [Presence] in Serum or Plasma by ImmunofluorescenceL106533-3P200 pemphigoid IgG Ab [Presence] in Serum or Plasma by ImmunofluorescenceL106534-1Collagen type VII IgG Ab [Presence] in Serum or Plasma by ImmunofluorescenceL106780-0Hereditary thyroid cancer multigene analysis in Blood or Tissue by Molecular genetics methodL106781-8Hereditary renal cancer multigene analysis in Blood or Tissue by Molecular genetics methodL106782-6Hereditary pancreatic cancer multigene analysis in Blood or Tissue by Molecular genetics methodL106783-4Myelodysplastic neoplasm chromosome analysis in Blood or Marrow by FISHL106784-2Membranous nephropathy associated antigens analysis in Tissue by LC/MS/MSL107159-6Chromosome analysis in Blood by MicroarrayL107196-8IgK gene Tube B length in base pairs [#] in Specimen by Molecular genetics methodL107197-6IgK gene Tube A length in base pairs [#] in Specimen by Molecular genetics methodL107198-4IgH FR3 length in base pairs [#] in Specimen by Molecular genetics methodL107199-2IgH FR2 length in base pairs [#] in Specimen by Molecular genetics methodL107200-8IgH FR1 length in base pairs [#] in Specimen by Molecular genetics methodL107256-0PDGFRA gene full mutation analysis [Presence] in Blood or Tissue by SequencingL107286-7Homologous recombination deficiency status analysis [Presence] in Tissue by Molecular genetics methodL107445-9TPSAB1 gene copy number in Blood or Tissue by Molecular genetics methodL107540-7Severe combined immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics methodL107541-5Hereditary hemolytic anemia multigene analysis in Blood or Tissue by Molecular genetics methodL107542-3Red blood cell enzyme disorders multigene analysis in Blood or Tissue by Molecular genetics methodL107543-1Hypercholesterolemia multigene analysis in Blood or Tissue by Molecular genetics methodL107544-9Chronic eosinophilia chromosome analysis in Blood or Tissue by FISHL107545-6Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy multigene analysis in Blood or Tissue by Molecular genetics methodL107546-4Hereditary gastrointestinal cancer multigene analysis in Blood or Tissue by Molecular genetics methodL107547-2Comprehensive cardiomyopathy multigene analysis in Blood or Tissue by Molecular genetics methodL107548-0Autoinflammatory disorders multigene analysis in Blood or Tissue by Molecular genetics methodL107549-8Arrhythmogenic cardiomyopathy multigene analysis in Blood or Tissue by Molecular genetics methodL107554-8Clonal frequency in Blood or Tissue by Molecular genetics methodL107611-6MicroRNA score of liver function [Presence] in Platelet poor plasma by calculationL108154-6Blood pathogen DNA [Identifier] in Specimen by NAA with non-probe detection NominalL111525-2Hereditary paraganglioma-pheochromocytoma multigene analysis [Mass/volume] in Blood or Tissue by Molecular genetics methodL111736-5Gastric cancer risk [Score] in Serum by calculationL111768-8SMN1 gene copy number in Blood or Tissue by Molecular genetics methodL111820-7Aspergillus sp DNA [Identifier] in Bronchoalveolar lavage by NAA with probe detection NominalL111821-5Aspergillus fumigatus CYP51A gene DNA TR34 and TR46 resistance mutations [Identifier] in Bronchoalveolar lavage by NAA with probe detection NominalL112304-1C16:1-OH sulfatide [Mass/volume] in DBSL112305-8C16:0 sulfatide [Mass/volume] in DBSL112306-6Prostate cancer risk in Tissue by Artificial intelligence image analysisL112327-2Hereditary idiopathic pulmonary fibrosis multigene analysis in Blood or Tissue by Molecular genetics methodL112328-0Bone marrow failure multigene analysis in Blood or Tissue by Molecular genetics methodL112329-8Combined humoral and cell-mediated immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics methodL112330-6Inborn errors of immunity multigene analysis in Blood or Tissue by Molecular genetics methodL112331-4Phagocytic cell disorder and chronic granulomatous disease multigene analysis in Blood or Tissue by Molecular genetics methodL30911-2DNA ploidy [Identifier] in Specimen by Flow cytometry (FC) NominalL30914-6Hyperdiploid cells/cells in Specimen by Flow cytometry (FC)L30915-3Aneuploid cells/cells in Specimen by Flow cytometry (FC)L30916-1Euploid+Aneuploid cells/cells in SpecimenL31114-2Aneuploid cell population 1/cells in SpecimenL31115-9Aneuploid cell population 2/cells in SpecimenL31116-7Euploid+Aneuploid cells population 1/cells in SpecimenL31117-5Euploid+Aneuploid cells population 2/cells in SpecimenL31118-3G2+M phase cells/cells in SpecimenL34972-0DNA index 3 in Specimen by Flow cytometry (FC)L34973-8DNA index 2 in Serum or Plasma by Flow cytometry (FC)L34974-6DNA index 3 in Serum or Plasma by Flow cytometry (FC)L34975-3DNA index in Serum or Plasma by Flow cytometry (FC)L35455-5X chromosome inactivation [Identifier] in Blood or Tissue NarrativeL35463-9Telomere analysis [Identifier] in Blood or Tissue NominalL35692-3G0+G1 phase cells/cells in Specimen by Flow cytometry (FC)L36909-0G0+G1 phase cells/cells in BloodL36910-8S-phase cells/cells in BloodL38471-9Karyotype [Identifier] in Urine NominalL41294-0S-phase cells [Presence] in SpecimenL42635-3Chromosome 12p tetrasomy [Presence] in Fixed tissue by Molecular genetics methodL48730-6X linked heterotaxy [Identifier] in Blood or Tissue by FISH NarrativeL49490-6BCR-ABL1 b2a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics methodL49491-4BCR-ABL1 b3a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics methodL49496-3BCR-ABL1 e1a1 fusion protein [Presence] in Blood or Tissue by Molecular genetics methodL54096-3Identity testing [Identifier] in Index case from Comparison case by Molecular genetics method NarrativeL55198-6Zygosity [Identifier] in Blood or Tissue by Molecular genetics method NominalL55345-3VIM gene methylation [Presence] in Stool by Molecular genetics methodL56157-1HOXB13 gene/IL17BR gene [Ratio] in Tissue by Molecular genetics methodL57029-1Fetal chromosome 13+18+21+X+Y aneuploidy in Tissue by Molecular genetics method NominalL57030-9Chromosome 13+18+21+X+Y aneuploidy in Blood by Molecular genetics method NominalL57037-4Chromosome 13+18+21+X+Y aneuploidy in Amniotic fluid by Molecular genetics method NominalL57038-2Chromosome 12 aneuploidy in Amniotic fluid or Chorionic villus sample by FISH NominalL57453-3Chromosome 18 aneuploidy in Amniotic fluid or Chorionic villus sample by FISH NominalL57454-1Chromosome 13 aneuploidy in Amniotic fluid or Chorionic villus sample by FISH NominalL58454-0Subtelomere analysis [Identifier] in Blood or Tissue by Molecular genetics method NominalL60253-2DNA index 4 in Specimen by Flow cytometry (FC)L62372-8FISH probe vendor [Identifier] in Laboratory deviceL63068-1TOP2A gene copy number/Chromosome 17 copy number in Tissue by FISHL63069-9TOP2A gene [Interpretation] in Tissue NarrativeL63070-7TOP2A gene 17q21-22 deletion and duplication mutation analysis [Presence] in Tissue by FISHL70109-4Number of chromosome 13 present [#] in Amniotic fluid by NAA with probe detectionL70110-2Number of chromosome 18 present [#] in Amniotic fluid by NAA with probe detectionL70111-0Number of chromosome 21 present [#] in Amniotic fluid by NAA with probe detectionL72496-3DNA double strand [Mass/volume] in SpecimenL74041-5BCR-ABL1 p210 Major Molecular Response (MMR) [Presence] in Blood or Tissue by Molecular genetics method --post treatmentL75011-7t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75012-5t(4;11)(q21.3;q23)(AFF1,MLL) fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75013-3t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75014-1t(9;12)(q34.1;p13)(ABL1,ETV6) fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75015-8t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics methodL75016-6t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75017-4t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75019-0t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript [Presence] in Bone marrow by Molecular genetics methodL75020-8t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Bone marrow by Molecular genetics methodL75544-7Noninvasive prenatal testing overall interpretation QualitativeL75545-4Noninvasive prenatal testing comment [Text]L75566-0Fetal Monosomy X prior risk [Likelihood] Based on maternal ageL75567-8Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75568-6Fetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeL75569-4Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75570-2Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75571-0Comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75586-8Fetal Angelman syndrome prior risk [Likelihood] based on general population riskL75587-6Fetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeL75588-4Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75589-2Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75590-0Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75591-8Comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75604-9Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAL75607-2Paternal sample received QualitativeL75733-6AXIN2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL75734-4AXIN2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL75735-1BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL76412-6Sheep prion protein codon 141 [Type] in Blood by Genotype methodL76413-4Sheep prion protein codon 112 [Type] in Blood by Genotype methodL76414-2Sheep prion protein codon 136 [Type] in Blood by Genotype methodL76415-9Sheep prion protein codon 154 [Type] in Blood by Genotype methodL76416-7Sheep prion protein codon 171 [Type] in Blood by Genotype methodL77016-4Fetal RhD antigen in Plasma cell-free DNA by MS.MALDI-TOFL77164-2Karyotype [Identifier] in Products of Conception NominalL77171-7KIT gene exon 11 mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77172-5KIT gene exon 9 mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalL77654-2Diploid cells in G2 phase/cells in Cells.XXX by Flow cytometry (FC)L77655-9Diploid cells/cells in Cells.XXX by Flow cytometry (FC)L77656-7Diploid cells in S phase/cells in Cells.XXX by Flow cytometry (FC)L77657-5Diploid cells in G1 phase/cells in Cells.XXX by Flow cytometry (FC)L77658-3Aneuploid cell population in G2 phase/cells in Cells.XXX by Flow cytometry (FC)L77659-1Aneuploid cell population in S phase/cells in Cells.XXX by Flow cytometry (FC)L77660-9Aneuploid cell population 2 in G2 phase/cells in Cells.XXX by Flow cytometry (FC)L77661-7Aneuploid cell population 2 in S phase/cells in Cells.XXX by Flow cytometry (FC)L77662-5Diploid G1 phase cell population peak channel [#] in Cells.XXX by Flow cytometry (FC)L77663-3Aneuploid G1 phase cell population peak channel [#] in Cells.XXX by Flow cytometry (FC)L77664-1Aneuploid G1 phase cell population 2 peak channel [#] in Cells.XXX by Flow cytometry (FC)L79211-9Fetal Chromosome X and Y aneuploidy risk [interpretation] in Plasma cell-free DNA Qualitative by SequencingL79212-7Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by SequencingL81142-2PTPN22 gene.c.1858C>T [Presence] in Blood or Tissue by Molecular genetics methodL81147-1Specimen source patient identification [Interpretation] NarrativeL81748-6Chromosome region Yp11.3 deletion AndOr rearrangement in Blood or Tissue by FISHL81751-0Chromosome 17p13.1 deletion and 14q32 rearrangements in Bone marrow by FISHL81850-0Chromosome region 11p15 methylation and deletion+duplication in Amniotic fluid by Molecular genetics methodL81851-8Chromosome region 11p15 methylation and deletion+duplication in Blood or Tissue by Molecular genetics methodL81853-4Chromosome 15 and 16 and 22 aneuploidy in Blood or Tissue by Molecular genetics methodL81862-5Karyotype in Blood or Tissue --post mitogen stimulationL82309-6Basis for allelic phase [Type]L82479-7TRBV30 gene segment/TRBV gene segments.total in BloodL82480-5TRBV29 gene segments/TRBV gene segments.total in BloodL82481-3TRBV28 gene segment/TRBV gene segments.total in BloodL82482-1TRBV27 gene segment/TRBV gene segments.total in BloodL82483-9TRBV25 gene segments/TRBV gene segments.total in BloodL82484-7TRBV24-1 gene segment/TRBV gene segments.total in BloodL82485-4TRBV20-1 gene segment/TRBV gene segments.total in BloodL82486-2TRBV19 gene segments/TRBV gene segments.total in BloodL82487-0TRBV18 gene segments/TRBV gene segments.total in BloodL82488-8TRBV16 gene segments/TRBV gene segments.total in BloodL82489-6TRBV15 gene segments/TRBV gene segments.total in BloodL82490-4TRBV14 gene segments/TRBV gene segments.total in BloodL82491-2TRBV13 gene segments/TRBV gene segments.total in BloodL82492-0TRBV12 gene segments/TRBV gene segments.total in BloodL82493-8TRBV11 gene segments/TRBV gene segments.total in BloodL82494-6TRBV10 gene segments/TRBV gene segments.total in BloodL82495-3TRBV9 gene segments/TRBV gene segments.total in BloodL82496-1TRBV7 gene segments/TRBV gene segments.total in BloodL82497-9TRBV6 gene segments/TRBV gene segments.total in BloodL82498-7TRBV5 gene segments/TRBV gene segments.total in BloodL82499-5TRBV4 gene segments/TRBV gene segments.total in BloodL82500-0TRBV3-1 gene segment/TRBV gene segments.total in BloodL82501-8TRBV2 gene segments/TRBV gene segments.total in BloodL82532-3SDHB and SDHC and SDHD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL82597-6Chromosome painting analysis in Blood or Tissue by FISHL83059-6KRAS gene [VCF] in Cancer specimen by SequencingL83060-4NRAS gene [VCF] in Cancer specimen by SequencingL83061-2BRAF gene [VCF] in Cancer specimen by SequencingL83062-0PIK3CA gene [VCF] in Cancer specimen by SequencingL83063-8PTEN gene [VCF] in Cancer specimen by SequencingL84917-4Chromosome Y aneuploidy [Presence] in Amniotic fluid or Chorionic villus sample by FISHL84918-2Chromosome X aneuploidy [Presence] in Amniotic fluid or Chorionic villus sample by FISHL84919-0Chromosome 21 aneuploidy [Presence] in Amniotic fluid or Chorionic villus sample by FISHL86611-1Chromosome analysis in Amniotic fluid or Chorionic villus sample by MicroarrayL87396-8GenBank accession numberL87436-2Chromosome X and Y aneuploidy in Blood or Tissue by FISHL87731-6KIT gene exon 17 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL87732-4KIT gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL87733-2KIT gene exon 8 targeted mutation analysis in Blood or Tissue by Molecular genetics methodL87738-1GALC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL87756-3BMPR1A and SMAD4 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL88571-5Fetal Monosomy X risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA QualitativeL88744-8inv(2)(p21;p23)(EML4,ALK) fusion transcript [Presence] in Tissue by Molecular genetics methodL89037-6CDKN2A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL89038-4CHEK2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL89039-2MSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics methodL90925-9HBB gene full mutation analysis in Amniotic fluid or Chorionic villus sample by SequencingL90926-7MET gene amplification in Blood or Tissue by FISHL92002-5SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detectionL92003-3Spinal muscular atrophy newborn screening comment-discussionL92004-1Spinal muscular atrophy newborn screen interpretationL92636-0APOL1 inferred genotype [Identifier] in Plasma from DonorL92675-8MSH2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL92676-6MLH1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL92821-8Allelic frequency in PopulationL92822-6Genomic coordinate system [Type]L92824-2Source of population allelic frequency dataL92905-9Chromosome 7 copy number/nucleus in Blood or Tissue by FISHL92906-7MET gene copy number/nucleus in Blood or Tissue by FISHL92907-5MET gene copy number/Chromosome 7 copy number in Blood or Tissue by FISHL92990-1F10 gene full mutation analysis in Blood or Tissue by SequencingL92991-9F13A1 and F13B gene full mutation analysis in Blood or Tissue by SequencingL92992-7FGA, FGB, and FGG gene full mutation analysis in Blood or Tissue by SequencingL92993-5PROCR gene full mutation analysis in Blood or Tissue by SequencingL92994-3PROS1 gene full mutation analysis in Blood or Tissue by SequencingL92995-0THBD gene full mutation analysis in Blood or Tissue by SequencingL93044-6Level of evidenceL93200-4Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics methodL93201-2Coronary heart disease multigene analysis in Blood or Tissue by Molecular genetics methodL93343-2Treatment to which interaction between genetic variants confers synergy [Identifier] in Blood or Tissue NominalL93344-0Treatment to which genetic variant confers resistance [Identifier] in Blood or Tissue NominalL93345-7Genetic variant effect on drug resistance in Blood or Tissue NarrativeL93346-5Genetic variant effect on drug sensitivity in Blood or Tissue NarrativeL93347-3Available treatment related to genetic variant and not to patient diagnosis [Identifier] in Blood or Tissue NominalL93348-1Available treatment related to genetic variant and to patient diagnosis [Identifier] in Blood or Tissue NominalL93349-9Treatment to which interaction between genetic variants confers resistance [Identifier] in Blood or Tissue NominalL93356-4Cells with cytogenetic abnormality [#] in Blood or Tissue by Molecular genetics methodL93359-8Monotypic plasma cell DNA ploidy [Type] in Bone marrow by Flow cytometry (FC)L93360-6Monotypic plasma cell DNA index in Bone marrow by Flow cytometry (FC)L93361-4Monotypic plasma cells in S phase/cells in Bone marrow by Flow cytometry (FC)L93364-8Genetic variant diagnostic significance [Interpretation] in Blood or Tissue NarrativeL93365-5Genetic variant prognostic significance [Interpretation] in Blood or Tissue NarrativeL93366-3Gene studied with no variant found [Identifier] in Blood or Tissue NominalL93367-1Variant of unknown significance [Identifier] in Blood or Tissue NominalL93368-9Summary of interaction between genetic variants [Interpretation] in Blood or Tissue NarrativeL93418-2(8;8)(q13;q21)(HEY1,NCOA2) fusion transcript [Presence] in Tissue by Molecular genetics methodL93420-8APOA1 gene full mutation analysis in Blood or Tissue by SequencingL93788-8F5 gene HR2 haplotype [Genotype] in Blood by Molecular genetics method NominalL93796-1MYCN gene amplification in Blood or Tissue by FISHL93797-9MYCN gene copy number/Chromosome 2 copy number in Tissue by FISHL93798-7MYCN gene copy number/nucleus in Tissue by FISHL93799-5Chromosome 2 copy number/nucleus in Tissue by FISHL93801-9Chromosome 1 polysomy [Presence] in Tissue by FISHL93803-5Chromosome 19 polysomy [Presence] in Tissue by FISHL93804-3Chromosome 12 copy number/nucleus in Tissue by FISHL93805-0MDM2 gene copy number/nucleus in Tissue by FISHL93806-8EWSR1 gene rearrangements in Tissue by FISHL93807-6FOXO1 gene rearrangements in Tissue by FISHL93808-4MDM2 gene amplification in Tissue by FISHL93809-2MDM2 gene copy number/Chromosome 12 copy number in Tissue by FISHL93810-0SS18 gene rearrangements in Tissue by FISHL93811-8F9 gene full mutation analysis in Blood or Tissue by SequencingL93814-2SERPINC1 gene full mutation analysis in Blood or Tissue by SequencingL93815-9PROC gene full mutation analysis in Blood or Tissue by SequencingL93843-1Primary hyperoxaluria multigene analysis in Blood or Tissue by Molecular genetics methodL94087-4Chromosome analysis in Blood or Tissue by MicroarrayL94186-4Origin of germline genetic variant [Type]L94188-0APC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94189-8APOA2 gene full mutation analysis in Blood or Tissue by SequencingL94190-6BPGM gene full mutation analysis in Blood or Tissue by SequencingL94191-4BRCA1+BRCA2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94192-2SLC25A20 gene full mutation analysis in Blood or Tissue by SequencingL94193-0CDKN1C gene full mutation analysis in Blood or Tissue by SequencingL94194-8CPOX gene full mutation analysis in Blood or Tissue by SequencingL94195-5CPT2 gene full mutation analysis in Blood or Tissue by SequencingL94196-3CTRC gene full mutation analysis in Blood or Tissue by SequencingL94197-1CYP21A2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94199-7FGA gene full mutation analysis in Blood or Tissue by SequencingL94200-3FTCD gene full mutation analysis in Blood or Tissue by SequencingL94201-1GNPTAB gene full mutation analysis in Blood or Tissue by SequencingL94202-9GRHPR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94203-7GSN gene full mutation analysis in Blood or Tissue by SequencingL94204-5HMBS gene full mutation analysis in Blood or Tissue by SequencingL94205-2LYZ gene full mutation analysis in Blood or Tissue by SequencingL94206-0MMACHC gene full mutation analysis in Blood or Tissue by SequencingL94207-8MMADHC gene full mutation analysis in Blood or Tissue by SequencingL94208-6MLYCD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94209-4NAGLU gene full mutation analysis in Blood or Tissue by SequencingL94210-2ARSB gene full mutation analysis in Blood or Tissue by SequencingL94211-0NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94212-8PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94213-6PPOX gene full mutation analysis in Blood or Tissue by SequencingL94214-4PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94215-1PRSS1 gene full mutation analysis in Blood or Tissue by SequencingL94216-9STK11 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94217-7TP53 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94218-5UBE3A gene full mutation analysis in Blood or Tissue by SequencingL94219-3VWF gene full mutation analysis in Blood or Tissue by SequencingL94220-1SPINK1 gene full mutation analysis in Blood or Tissue by SequencingL94221-9SMN1 gene full mutation analysis in Blood or Tissue by SequencingL94222-7SERPINA1 gene full mutation analysis in Blood or Tissue by SequencingL94223-5PTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94224-3RET gene full mutation analysis in Blood or Tissue by SequencingL94225-0TTR gene full mutation analysis in Blood or Tissue by SequencingL94226-8PKHD1 gene full mutation analysis in Blood or Tissue by SequencingL94227-6AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94228-4MUTYH gene full mutation analysis in Blood or Tissue by SequencingL94229-2MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94230-0GBA gene full mutation analysis in Blood or Tissue by SequencingL94231-8G6PD gene full mutation analysis in Blood or Tissue by SequencingL94232-6FLCN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94233-4FECH gene full mutation analysis in Blood or Tissue by SequencingL94234-2F8 gene full mutation analysis in Blood or Tissue by SequencingL94235-9F7 gene full mutation analysis in Blood or Tissue by SequencingL94236-7F5 gene full mutation analysis in Blood or Tissue by SequencingL94237-5F2 gene full mutation analysis in Blood or Tissue by SequencingL94238-3F12 gene full mutation analysis in Blood or Tissue by SequencingL94239-1F11 gene full mutation analysis in Blood or Tissue by SequencingL94240-9CDH1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL94241-7BTK gene full mutation analysis in Blood or Tissue by SequencingL94242-5BTD gene full mutation analysis in Blood or Tissue by SequencingL94338-1Chromosome 13+15+16+18+21+22+X+Y aneuploidy in Products of Conception by FISHL94587-3Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencingL94588-1Myeloid neoplasm chromosome analysis in Blood or Marrow by Mate pair sequencingL94589-9Hematologic neoplasm chromosome analysis in Blood or Marrow by Mate pair sequencingL94590-7Oncologic chromosome analysis in Tissue by Mate pair sequencingL94591-5Chromosome rearrangement [Identifier] in Blood or Tissue by Molecular genetics method NarrativeL94592-3Chromosome rearrangement [Identifier] in Blood or Tissue by Mate pair sequencing NominalL94751-5RHCE gene allele Ee [Genotype] in Blood or Tissue by Molecular genetics method NominalL94752-3RHCE gene allele Cc [Genotype] in Blood or Tissue by Molecular genetics method NominalL94820-8Whole mRNA transcriptome sequence analysis in Blood or Tissue by SequencingL95070-9Chromosome 9 and 11 and 15 aneuploidy in Bone marrow by FISHL95123-6Gene fusion transcript details in Blood or Tissue by Molecular genetics method NarrativeL95124-4Sarcoma targeted gene fusion transcript analysis in Tissue by SequencingL95130-1Aggressive prostate cancer risk [Score] by Calculated by ExoDxL95229-1Biliary tract neoplasm chromosome analysis in TissueL95230-9Biliary tract neoplasm chromosome aneuploidy and cytology analysis in TissueL95769-6BMPR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL95770-4GALT gene targeted mutation analysis in Blood or Tissue by Molecular genetics methodL95771-2GATA2 gene full mutation analysis in Blood or Tissue by SequencingL95772-0IDH1 and IDH2 genes targeted mutation analysis in Blood or Tissue by Molecular genetics methodL95773-8ACADM gene full mutation analysis in Blood or Tissue by SequencingL95774-6MSH6 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodL95775-3HGSNAT gene full mutation analysis in Blood or Tissue by SequencingL95776-1GNS gene full mutation analysis in Blood or Tissue by SequencingL95777-9ACADS gene full mutation analysis in Blood or Tissue by SequencingL95778-7TERT gene promotor region targeted mutation analysis in Tissue by Molecular genetics methodL95779-5TFE3 gene rearrangements in Tissue by FISHL95780-3TFEB gene rearrangements in Tissue by FISHL95781-1ATP7B gene full mutation analysis in Blood or Tissue by SequencingL95782-9ABCD1 gene full mutation analysis in Blood or Tissue by SequencingL95783-7ETV6 gene rearrangements in Blood or Marrow by FISHL95784-5FGFR2 gene rearrangements in Tissue by FISHL95785-2FOXL2 gene targeted mutation analysis in Tissue by Molecular genetics methodL95786-0Gene XXX mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics methodL96893-3ERBB2 gene duplication in Tumor by FISHL96979-0Trisomy 13, trisomy 18 or triploidy risk [Interpretation] in Plasma cell-free+WBC DNA Qualitative by calculationL96980-8Comment on overall fetal aneuploidy risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL96981-6Trisomy 13, trisomy 18 or triploidy risk [Likelihood] in Plasma cell-free+WBC DNA by calculationL96984-0Chromosome analysis in Products of Conception by MicroarrayL96985-7Sex [Type] in Products of Conception by Molecular genetics methodL97103-6Zygosity [Type] in Fetuses by Molecular genetics methodL97565-6B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics methodL97654-8SMN2 gene copy number in Blood or Tissue by Molecular genetics methodL97655-5Hereditary breast and gynecologic cancer multigene analysis in Blood or Tissue by Molecular genetics methodL97656-3Hereditary cancer multigene analysis in Blood or Tissue by Molecular genetics methodL97760-3MLH1 gene methylation analysis in Blood by Molecular genetics methodL97761-1MLH1 gene methylation analysis in Tumor by Molecular genetics methodL98014-4Plasma cell proliferation analysis in Bone marrow by FISHL98037-5Jewish descent preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue by Molecular genetics methodL98038-3CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics methodL98039-1Preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue by Molecular genetics methodL98489-8FLT3 gene internal tandem duplication length [#] in Blood or Tissue by Molecular genetics methodL98490-6FLT3 gene.p.Asp835+Ile836 mutations/Normal in Blood or Tissue by Molecular genetics methodL98954-1KCNN4 gene full mutation analysis in Blood or Tissue by SequencingL99706-4Hepatocellular carcinoma screening [Interpretation] based on clinical and lab dataL99785-8Cell-free DNA.donor/Cell-free DNA.total in Plasma cell-free DNA --post cardiac transplantL99786-6Cell-free DNA.donor/Cell-free DNA.total in Plasma cell-free DNA --post lung transplantL99787-4Cell-free DNA.donor/Cell-free DNA.total in Plasma cell-free DNA --post kidney transplantL99959-9Urothelial carcinoma gene expression score in Urine by Molecular genetics methodL99960-7ADAMTS13 gene full mutation analysis in Blood or Tissue by SequencingL99961-5Myeloproliferative neoplasm multigene analysis in Blood or Tissue by Molecular genetics methodL99962-3JAK2 gene exon 12 full mutation analysis in Blood or Tissue by SequencingL99963-1JAK2 gene exon 14 full mutation analysis in Blood or Tissue by SequencingL99964-9MPL gene exon 10 full mutation analysis in Blood or Tissue by SequencingL99965-6ASXL1 gene exon 13 full mutation analysis in Blood or Tissue by SequencingL99966-4KIT gene exon 17 full mutation analysis in Blood or Tissue by SequencingL99967-2Atypical hemolytic uremic syndrome multigene analysis in Blood or Tissue by Molecular genetics methodL99968-0Thrombotic microangiopathy multigene analysis in Blood or Tissue by Molecular genetics methodL99969-8PLG gene full mutation analysis in Blood or Tissue by SequencingL99970-6Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics methodL99971-4Hemophagocytic lymphohistiocytosis multigene analysis in Blood or Tissue by Molecular genetics methodL99972-2Hearing loss multigene analysis in Blood or Tissue by Molecular genetics methodL