Molecular Genetics Prothrombin Gene Mutation (G20210A)

Prothrombin gene mutation is the second most common cause of inherited thrombophilia in the United States.  It is present in about 2% of Caucasians.  It is caused by a change or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II).  People with the prothrombin gene mutation have higher than normal levels of prothrombin in their blood, making them prone to blood clots, most common in the veins.
 
The prothrombin gene mutation can be inherited from one or both parents.  This means that if one parent has it, then each child has a 50:50 chance of inheriting it.

Direct detection by PCR of the G20210A mutation in the prothrombin gene.

• Blood:  6 mL in EDTA (purple-top) or ACD (yellow-top) tube
• DNA: 10µg at a minimum of 100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Weekly

7 – 10 Days

• Keep specimen cold during transit, but do not ship on dry ice. 
• Please use the cold pack provided in the KDL shipping kit. 
• Contact Client Services at (855) 535-1522 for shipping kits and instructions. 
• Ship the specimen via overnight express, using the FedEx priority overnight label provided.