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Paediatric Laboratory Medicine

Genetic screening for MTHFR

Clinical Significance

The MTHFR (Methylenetetrahydrofolate Reductase) enzyme plays a major role in homocysteine metabolism and contains several known polymorphisms, of which the most common is C677T. This mutation is reported to reduce MTHFR activity, resulting in hyperhomocysteinemia. This condition is associated with an increased risk for arterial and venous thrombosis.

Test Name

Genetic screening for MTHFR

Gene Name



Haematopathology- Molecular Haematology


RT PCR (Real-time polymerase chain reaction), with allele specific probe.

Turn Around Time

14 working days


Thromboembolic Diseases

Specimen Type

Peripheral Blood, Bone Marrow Aspirate

Minimum Specimen Requirements

2 mL


Room Temperature (on ice if shipping takes more than 48 hrs).

Special Requirements

Peripheral Blood and Bone Marrow aspirate in EDTA or Sodium citrate

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212