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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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