Single Gene test: MTHFR

Test Information

Title
Single Gene test: MTHFR
Category
Hematology
Test Name (CMS Title)
Thrombosis
Gene/Platform/Region List
MTHFR (c.665C>T (p.A222V))
Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
PCR-RFLP
Methodology Notes
Restriction digestion; Targeted Mutation
Disease/Condition
Homocystinuria, Hereditary Thrombosis

Last Updated: November 14, 2025