Thrombophilia
Who Should Test?
Medical Guidelines and References
How to Order Testing For Your Patient

Who Should Test?

  • Personal history of venous thrombosis (VTE), DVT, or PE, especially at a young age (<50 years)
  • Personal history of retinal, intestinal, or brain VTE
  • Cerebral VTE in female smoker under 50 years
  • Family history of DVT or PE
  • Known inherited thrombophilia mutation in the family
  • Women considering oral contraception or HRT
  • Pregnancy complications (such as multiple miscarriages, preeclampsia, placental abruption, stillbirth, or intrauterine growth retardation)
  • Patients with an active cancer or malignancy
  • Patients planning surgery
  • Lifestyle risk factors: immobility, obesity, smoking, long-haul flights or car trips

Medical Guidelines and References

Carraro P. 2003. Guidelines for the laboratory investigation of inherited thrombophilias. Recommendations for the first level clinical laboratories. Clin Chem Lab Med; 41(3):382-91.

Grandone, E. 2005. Infertility and thrombophilia. Thrombosis Research. Feb;115 Suppl 1:24-27.

Grody WW, Griffin JH, Taylor AK, et al. 2001. American College of Medican Genetics consensus statement on factor V Leiden mutation testing. Genet Med 3(2): 139-148.

http://www.acmg.net/resources/policy-list.asp

Krabbendam, I, A Franx, ML Bots, et al. 2005. Thrombophilias and recurrent pregnancy loss; a critical appraisal of the literature. European Journal of Obstetrics & Gynecology and Reproductive Biology 118:143-153.

McGlennen RC, Key NS. 2002. Clinical and laboratory management of the prothrombin G20210A mutation. Arch Pathol Lab Med. Nov;126(11):1319-25.

How to Order Testing For Your Patient

Ordering testing for your patient through DNA Direct is easy.

  1. Print and complete the DNA Direct Referral Form, and fax it to 806-993-6708, Attention: Clinical Services. (Make sure your patient signs the form and checks the box authorizing DNA Direct to release test results to you.)

  2. DNA Direct Referral Form

  3. DNA Direct will send a cheek-swab collection kit directly to your patient and will coordinate all testing services. As part of the testing process, your patient is asked to create a user account with DNA Direct and answer a brief clinical questionnaire.

  4. When testing is complete, as the referring physician you receive a copy of the test results and a Physician Letter, complete with test result interpretation, current medical guidelines, and scientific references. Your patient can then log on to their secure, password-protected account to learn more about their test results and receive updates on clinically relevant information.

  5. You and your patients have ongoing access to support services from DNA Direct's board-certified genetics staff by phone (toll-free at 1-877-646-0222, M-F, 9-5 Pacific) and email (expert@dnadirect.com).
this page last updated: June 1, 2007