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Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) 
2011157
Ordering Recommendation

Confirm suspected cobalamin/propionate/homocysteine metabolism-related disorder in individual with clinical symptoms and/or biochemical findings.

Mnemonic
VB12 PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Genes Sequenced: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 

Genes Deletion/Duplication: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2
CPT Code(s)
81404 (MMACHC); 81405 x3 (MMAA, MMAB, PCCA); 81406 x4 (CBS, MUT, PCCA, PCCB); 81479 x2
Components
Component Test Code*Component Chart NameLOINC
2011224Cobalamin/Propionate/Homocysteine Spec31208-2
2011227Cobalamin/Propionate/Homocysteine Int35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB
  • B-12
  • B12
  • Combined malonic and methylmalonic aciduria
  • Genes Deletion/Duplication: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, LMBRD1, MAT1A
  • Genes Sequenced: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A
  • 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
  • Intrinsic factor deficiency
  • MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB
  • 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
  • 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)
  • MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2
  • Propionic acidemia
  • SUCLA2, SUCLG1, TCN1, TCN2
  • Transcobalamin I deficiency
  • Transcobalamin II deficiency