Methylene Tetrahydrofolate Reductase genotyping
GTR Test Accession: Help GTR000025670.4
CAP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2020-06-02
Last annual review date for the lab: 2024-04-29 LinkOut
At a Glance
Diagnosis; Risk Assessment
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; MTHFR THERMOLABILE POLYMORPHISM; methotrexate response - Toxicity
Genes (1): Help
MTHFR (1p36.22)
Molecular Genetics - Targeted variant analysis: PCR
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
MTHFR
Specimen Source: Help
Who can order: Help
  • Health Care Provider
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 3
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
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Recommended fields not provided:
Technical Information
Test Comments: Help
PCR-based assay using TaqMan chemistry
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
specificiy and sensitivity 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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