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MTHFR A1298C C677T
Clinical Genetic Test
Help
offered by
IBC Instituto de Bioquimica Clinica SRL
View lab's test page
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GTR Test Accession: Help GTR000557236.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2017-09-12
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Last annual review date for the lab: 2023-07-12 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (1): Help
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Genes (1): Help
MTHFR (1p36.22)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Allele-specific primer extension (ASPE)
Target population: Help
Patients with HIperhomocysteinemia Thrombophilia
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
IBC Instituto de Bioquimica Clinica SRL
View lab's website
View lab's test page
Test short name: Help
MTHFR Variants
Manufacturer's name: Help
TibMolBiol
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
MTHFR
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
MTHFR variants
Mutations MTHFR
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Manufactured (research use only; not FDA-reviewed)
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:
Lab contact for this test, Test strategy
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
Allele-specific primer extension (ASPE)
Roche LightCycler 480
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Patients with HIperhomocysteinemia Thrombophilia
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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
Specificity by sequencing the amplicon Sensitivity by serial dilutions 250 copies (1.5 ng) Specificity and sensitivty by sequencing 132 samples from caucasians
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
Category: Not Applicable
Additional Information

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