Description

Genetic screening for 5,10-Methylenetetrahydrofolate Reductase (MTHFR) mutations MTHFR 677C>T and MTHFR 1298A>C. MTHFR 677C>T homozygosity predisposes to arterial and venous thrombosis in the presence of additional risk factors; the thermolabile variant (T allele) is associated with reduced enzyme activity and elevated plasma homocysteine levels in conjunction with folate deficiency. Furthermore, compound heterozygosity for 677C>T and 1298A>C is associated with reduced MTHFR enzyme activity.

SPECIMEN TYPE: Buccal Swab

SAMPLE COLLECTION: Self collected

SAMPLE STORAGE & SHIPPING: Ambient temperature / no special shipping conditions

RESULT TURNAROUND TIME: Between 1 and 5 working days

Available Tests Code Price  
MTHFR - C677T & A1298C (Buccal Swab) GSC1001 120,00 €