Who Should Test?
Medical Guidelines and References
How to Order Testing For Your Patient
Who Should Test?
- Family history of cystic fibrosis
- Known familial mutation in the CFTR gene
- Positive sweat chloride test
- Personal diagnosis of cystic fibrosis without having had genetic testing
- All couples planning a pregnancy or currently pregnant
- Personal or family history of CBAVD (congenital bilateral absence of the vas deferens)
- Couples experiencing infertility
- Unexplained respiratory or digestive problems, chronic lung infections, or failure to thrive in children
- Unexplained respiratory or digestive problems or chronic sinusitis in adults
Medical Guidelines and References
Langfelder-Schwind E, Kloza E, Sugarman E, et al. 2005. Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the NSGC. Journal of Genetic Counseling, 14(1): 1-15.
Grody WW, Cutting GR, Klinger KW et al. 2001. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. ACMG statement. Genet Med 3(2):149-154.
American College of Obstetricians and Gynecologists, American College of Medical Genetics. Preconception and prenatal carrier screening for cystic fibrosis: Clinical and laboratory guidelines. Washington, DC: ACOG, ACMG; 2001;1-32.
Richards CS, Bradley LA, Amos J, et al. 2002. Standards and guidelines for CFTR mutation testing. ACMG statement. 4(5):379-391.
Watson MS, Cutting GR, Desnick RJ, et al. 2004. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6(5): 387-391.
How to Order Testing For Your Patient
Ordering testing for your patient through DNA Direct is easy.
- 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.)
- 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.
- 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.
- 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).
