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Methylenetetrahydrofolate reductase (MTHFR) 2 Mutations
Clinical Genetic Test
Help
offered by
ARUP Laboratories, Molecular Genetics and Genomics
View lab's test page
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GTR Test Accession: Help GTR000500809.3
NYS CLEP
Last updated in GTR: 2023-07-31
View version history
Last annual review date for the lab: 2023-07-17 LinkOut
At a Glance
Test purpose: Help
Risk Assessment
Conditions (1): Help
MTHFR THERMOLABILE POLYMORPHISM
Genes (1): Help
MTHFR (1p36.22)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Polymerase Chain Reaction/Fluorescence Monitoring
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
MTHFR PCR
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
55655
View other test codes
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Polymerase Chain Reaction/Fluorescence Monitoring
* Instrument: Not provided
Clinical Information
Test purpose: Help
Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity: 99%
View citations (2)
  • Hybridization-induced dequenching of fluorescein-labeled oligonucleotides: a novel strategy for PCR detection and genotyping. Vaughn CP, et al. Am J Pathol. 2003;163(1):29-35. doi:10.1016/S0002-9440(10)63627-9. PMID: 12819008.
  • Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Liew M, et al. Clin Chem. 2004;50(7):1156-64. doi:10.1373/clinchem.2004.032136. PMID: 15229148.
Assay limitations: Help
Only the two MTHFR gene mutations (C677T and A1298C) will be targeted; rare diagnostic errors may occur due to primer site mutations.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 4196
Status: Approved
Additional Information
Consumer resources:

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