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

2011157
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Example Reports
Negative
Positive

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Patient History for Cobalamin Propionate Homocysteine

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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.

Mnemonic
VB12 PANEL
Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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 Category

Laboratory Developed Test (LDT)

Note

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.

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