Prothrombin 20210G>A Mutation

Specimen Collection, Storage, and Shipping

Test Information:

The assay detects the 20210G>A (G20210A or c.*97G>A) allele in the prothrombin gene (F2 rs1799963) linked to elevated plasma prothrombin levels and a 3-fold increased risk for venous thrombosis [1, 2]. The 20210 G>A mutation is found in approximately 2% of the general population and 5-8% of individuals with VTE [2]. The mutation prevalence is approximately 2-5% in whites and Hispanics, up to 0.6% in African Americans, and is extremely low in Asians and Native Americans [1, 2]. The assay can also detect other rare sequence variations within the 3ʹ UTR of F2 (e.g., 20207A>C, 20209C>T, 20218A>G, 20219T>A, 20221C>T) that have been associated with thrombophilia events in specific ethnic groups [3, 4].

Requisition Code:

Prothrombin 20210G>A mutation

CPT Codes:

20210G>A variant: 81240; G0452-26

Other 3ʹUTR variants: 81479; G0452-26

Turn-Around Time:

7-10 days

Specimen Requirements:

Collect:           Peripheral blood: 2-5 mL in EDTA (purple top) tube

Storage:         Room temperature

Remarks:      

Transport:      See Standard Shipping Procedures

References:
  1. Kujovich JL. Prothrombin-Related Thrombophilia. 2006 Jul 25 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1148/
  2. Bauer KA. Prothrombin G2010A mutation. In: UpToDate, Leung LLK (Ed), UpToDate,Waltham, MA. (Accessed on November 23, 2016.)
  3. Danckwardt S, et al. 3' end processing of the prothrombin mRNA in thrombophilia. Acta Haematol 2006; 115:192-7.
  4. Lyon E. Discovering rare variants by use of melting temperature shifts seen in melting curve analysis Clin Chem 2005; 51:1331-2.