Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication
Confirm suspected cobalamin (vitamin B12)/propionate/homocysteine metabolism-related disorder in individuals with clinical symptoms and/or biochemical findings. Do not use to assess vitamin B12 level.
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 3 mL)
New York State Clients: Frozen
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 8 days; Refrigerated: 8 days; Frozen: 1 month
Massively Parallel Sequencing
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Genes Tested: ABCD4*; ACSF3; ADK; AHCY; AMN*; CBLIF; CBS*; CD320; CTH; CUBN; HCFC1; IVD*; LMBRD1; MAT1A; MCEE; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MMUT; MTHFR; MTR; MTRR; PCCA*; PCCB; SUCLA2; SUCLG1; TCN2
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see additional technical information
81404; 81405; 81406; 81479
|Component Test Code*||Component Chart Name||LOINC|
- Combined malonic and methylmalonic aciduria
- Homocystinuria due to cystathionine beta-synthase deficiency
- Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
- Homocystinuria-megaloblastic anemia, cbl E type
- Homocystinuria-megaloblastic anemia, cblG type
- Hypermethioninemia due to adenosinekinase deficiency
- Hypermethioninemia due to glycine-N-methyltransferase deficiency
- Hypermethioninemia due to S-adenosylhomocysteine hydrolyase deficiency
- Intrinsic factor deficiency
- Megaloblastic anemia-1, Finnish type
- Megaloblastic anemia-1, Norwegian type
- Methionine adenosyltransferase deficiency
- Methylmalonic acidemia and homocysteinemia, cblX type
- Methylmalonic aciduria and homocystinuria, cblC type
- Methylmalonic aciduria and homocystinuria, cblD type
- Methylmalonic aciduria and homocystinuria, cblF type
- Methylmalonic aciduria and homocystinuria, cblJ type
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (mut(0) type)
- Methylmalonic aciduria due to transcobalamin receptor defect
- Methylmalonic aciduria, cblA type
- Methylmalonic aciduria, cblB type
- Methylmalonyl-CoA epimerase deficiency
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- Propionic acidemia
- Transcobalamin I deficiency
- Transcobalamin II deficiency