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Paediatric Laboratory Medicine

Genetic screening for Factor V Leiden

Clinical Significance

The Factor V Leiden (G1691A) mutation is a point mutation that causes resistance of Factor V protein degradation by APC (activated protein C). This mutation is associated with increased risk of venous thrombosis.

Test Name

Genetic screening for Factor V Leiden

Gene Name

  • FV gene

Division

Haematopathology- Molecular Haematology

Method

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

External Proficiency Testing

CAP

Turn Around Time

14 working days

Disease/Condition

Thromboembolic Diseases

Specimen Type

Peripheral Blood, Bone Marrow Aspirate

Minimum Specimen Requirements

2 mL

Storage/Transportation

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
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212