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Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)

CPT Code(s): 81404 (MMACHC); 81405 x3 (MMAA, MMAB, PCCA); 81406 x4 (CBS, MUT, PCCA, PCCB); 81479 x2
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMABB-12B12Combined malonic and methylmalonic aciduriaGenes Deletion/Duplication: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, LMBRD1, MAT1AGenes Sequenced: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1AHomocystinuria due to cystathionine beta-synthase deficiencyHomocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activityHomocystinuria-megaloblastic anemia, cbl E typeHomocystinuria-megaloblastic anemia, cblG typeIntrinsic factor deficiencyMCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCBMegaloblastic anemia-1, Finnish typeMegaloblastic anemia-1, Norwegian typeMethionine adenosyltransferase deficiencyMethylmalonic acidemia and homocysteinemia, cblX typeMethylmalonic aciduria and homocystinuria, cblC typeMethylmalonic aciduria and homocystinuria, cblD typeMethylmalonic aciduria and homocystinuria, cblF typeMethylmalonic aciduria and homocystinuria, cblJ typeMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencyMethylmalonic aciduria due to transcobalamin receptor defectMethylmalonic aciduria, cblA typeMethylmalonic aciduria, cblB typeMethylmalonyl-CoA epimerase deficiencyMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2Propionic acidemiaSUCLA2, SUCLG1, TCN1, TCN2Transcobalamin I deficiencyTranscobalamin II deficiency
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