MOLPATH.DEL
Laboratory67 LOINC codes in this class
72824-6Del(17)(p13) [Identifier] in Blood or Tissue by FISH NominalL21614-3CDKN2A gene deletion [Presence] in Blood or Tissue by Molecular genetics methodL42712-0AML/MDS gene 7q31 deletion [Identifier] in Blood or Tissue by Molecular genetics method NominalL42715-3Del(5)(q12-35) deletion [Identifier] in Blood or Tissue by Molecular genetics method NominalL42634-61p and 19q chromosome deletion [Presence] in Fixed tissue by Molecular genetics methodL57906-09p21 chromosome deletion [Identifier] in Blood or Tissue by FISH NominalL53628-420q chromosome deletion [Identifier] in Blood or Tissue by FISH NominalL49028-4Microdeletion syndromes [Identifier] in Blood or Tissue by FISH NominalL50020-7Microdeletion syndromes in Blood or Tissue by FISHL35456-3Y chromosome deletion [Identifier] in Blood or Tissue NominalL101469-5HBA1+2 gene FIL deletion [Presence] in Blood by Molecular genetics methodL101470-3HBA1+2 gene THAI deletion [Presence] in Blood by Molecular genetics methodL21615-0CDKN2B gene deletion [Presence] in Blood or Tissue by Molecular genetics methodL21620-0STS gene deletion [Presence] in Blood or Tissue by Molecular genetics methodL34489-5TOR1A gene deletion [Presence] in Blood or Tissue by Molecular genetics methodL35470-4Mitochondria Genes deletion [Identifier] in Blood or Tissue by Molecular genetics method NominalL35473-8HEXA gene 7.6kb deletion [Presence] in Blood or Tissue by Molecular genetics methodL35645-1NSD1 gene deletion [Presence] in Blood or Tissue by Molecular genetics methodL45180-71p chromosome deletion [Presence] in Blood or Tissue by Molecular genetics methodL45181-519q chromosome deletion [Presence] in Blood or Tissue by Molecular genetics methodL46108-718q chromosome deletion [Identifier] in Blood or Tissue by Molecular genetics method NominalL49063-1Microdeletion syndromes in Specimen by FISH NominalL55236-4HBA2 gene alpha 4.2kb deletion [Presence] in Blood by Molecular genetics methodL55249-7HBA2 gene SEA deletion [Presence] in Blood by Molecular genetics methodL55250-5HBA2 gene THAI+FIL+MED+alpha 20.5 deletion [Presence] in Blood by Molecular genetics methodL55251-3HBA2 gene alpha 3.7kb deletion [Presence] in Blood by Molecular genetics methodL70289-4Del(1)(p32p32)(STIL,TAL1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics methodL71359-4Y chromosome AZFa region deletion [Identifier] in Blood or Tissue by Molecular genetics method NarrativeL71360-2Y chromosome AZFb region deletion [Identifier] in Blood or Tissue by Molecular genetics method NarrativeL71361-0Y chromosome AZFc region deletion [Identifier] in Blood or Tissue by Molecular genetics method NarrativeL72654-7SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH NominalL72728-9Del(13)(q14) [Identifier] in Blood or Tissue by FISH NominalL73749-44p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH NominalL73750-2RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH NominalL73751-05p15.2 (5p-) chromosome deletion [Identifier] in Blood or Tissue by FISH NominalL75383-0DMD gene deletion and duplication mutation analysis in Amniotic fluid or Chorionic villus sample by MLPAL75384-8PMP22 gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL75385-5DMD gene deletion and duplication mutation analysis in Blood or Tissue by MLPAL75574-4Fetal 22q11.2 deletion prior risk [Likelihood] based on general population riskL75575-1Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk NarrativeL75576-9Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75577-7Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75578-5Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75579-3Comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75580-1Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population riskL75581-9Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk NarrativeL75582-7Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75583-5Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75584-3Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75585-0Comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75592-6Fetal 5p deletion prior risk [Likelihood] based on general population riskL75593-4Fetal 5p deletion prior risk [Likelihood] based on general population risk NarrativeL75594-2Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75595-9Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75596-7Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75597-5Comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75598-3Fetal 1p36 deletion prior risk [Likelihood] based on general population riskL75599-1Fetal 1p36 deletion prior risk [Likelihood] based on general population risk NarrativeL75600-7Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAL75601-5Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL75602-3Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeL75603-1Comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeL78202-99q34 chromosome region deletion [Presence] in Blood or Tissue by FISHL78207-89q34 chromosome region deletion [Interpretation] in Blood or Tissue by FISH NarrativeL78245-8MYB gene deletion [Presence] in Blood or Tissue by FISHL78342-3MYB gene deletion [Interpretation] in Blood or Tissue by FISH NarrativeL78343-1Cells.MYB gene deletion/Cells counted in Blood or Tissue by FISHL