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.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Laboratory Developed Test (LDT)
Genes Tested: ABCD4, ACSF3, ADK**, AHCY**, AMN, CBS, CD320, CUBN, GIF, GNMT**, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2
** Deletion/duplication detection is not available for this gene.
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