• Test Code:
    2290
  • Department:
  • Test Synonyms:
    Prothrombin MutationProthrombin (G20210A) MutationFactor II
  • CPT Code(s):
    81240
Background:

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.

Methodology:

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

Specimen Requirements:

  • Blood:  6 mL in EDTA (purple-top) or ACD (yellow-top) tube
  • DNA: 10µg at a minimum of 100ng/µL

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

Test Performed (Days):

Weekly

Turn Around Time:

7 – 10 Days

Shipment Sensitivity Requirements:

  • 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. 

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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