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MTHFR gene variants
Clinical Genetic Test
Help
offered by
Centre for cellular and molecular biology
View lab's test page
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GTR Test Accession: Help GTR000522608.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Registered in GTR: 2015-05-25
View version history
Last annual review date for the lab: 2023-01-18 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Hyperhomocysteinemia; Neural tube defects, folate-sensitive
Genes (1): Help
MTHFR (1p36.22)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Centre for cellular and molecular biology
View lab's test page
Test short name: Help
MTHFR
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Informed consent required, Pre-test genetic counseling required, Post-test genetic counseling required, Test strategy, Test development
Conditions Help
Total conditions: 2
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
RFLP
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
98%-99%, using a sample size of 96 individuals.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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