2011157
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Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication

VB12 PANEL
Example Reports
Negative
Positive

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Cobalamin/Propionate/Homocysteine-Related Disorders Gene Panel Patient History Form

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Informed Consent for Genetic Testing (Required for NY patients)

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Additional Technical Information

Ordering Recommendation

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

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.
New York State Clients: Frozen

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients:  Ambient: 8 days; Refrigerated: 8 days; Frozen: 1 month

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By report

Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

Hotline History

N/A

CPT Codes

81404; 81405; 81406; 81479

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Components

Component Test Code* Component Chart Name LOINC
2011224 Cobalamin/Propionate/Homocysteine Spec 31208-2
2011227 Cobalamin/Propionate/Homocysteine Int 35474-6
* 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

  • Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
  • Combined malonic and methylmalonic aciduria
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Homocystinuria-megaloblastic anemia, cbl E type
  • Methylmalonic aciduria, cblA type
  • Methylmalonic acidemia and homocysteinemia, cblX type
  • Methionine adenosyltransferase deficiency
  • 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, cblB type
  • Methylmalonic aciduria and homocystinuria, cblC type
  • Hypermethioninemia due to adenosinekinase deficiency
  • Homocystinuria-megaloblastic anemia, cblG 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
  • 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
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication