Single Gene test: MTHFR

Test Information
Test Name Single Gene test: MTHFR
Lab (Location) Sunnybrook Health Sciences Centre
Category Hematology
Subcategory Thrombosis
Gene/Platform/Region List MTHFR (c.665C>T (p.A222V))
Test type Targeted Variant
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology PCR-RFLP
Methodology Notes Restriction digestion; Targeted Mutation
Diseases/Conditions Homocystinuria, Hereditary Thrombosis
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.