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

Who Should Test?

  • Male or female patients who have:
  • Not conceived following unprotected intercourse for:
    • One year or more (female under 33 yrs)
    • 6 months (female over 33 yrs)
  • Experienced 2 or more sequential pregnancy losses (miscarriages, fetal death or stillbirth) with the same partner
  • Current or prior history of idiopathic infertility
  • Experienced repeated failure with assisted reproductive techniques (ART)
  • Females with unexplained ovarian dysfunction or premature menopause
  • Males with abnormal semen analysis showing oligo- or azoospermia

Medical Guidelines and References

Guidelines:

ESHRE Capri Workshop Group. 2000. Optimal use of infertility diagnostic tests and treatments. Human Reproduction 15(3):723-732.

http://humrep.oxfordjournals.org/cgi/content/full/15/3/723

Foresta, C, A Ferlin, L Gianaroli, and B Dallapiccola. 2002. Guidelines for the appropriate use of genetic tests in infertile couples. European Journal of Human Genetics 10:303-312.

http://www.nature.com/ejhg/journal/v10/n5/abs
/5200805a.html;jsessionid=74ACEEFA3F2D
17B6C7D92EEBA87E0D06

Gangel, EK. 2002. AUA and ASRM produce recommendations for male infertility. American Urological Association, Inc and American Society for Reproductive Medicine. Am Fam Physician. Jun 15;65(12):2589-2590.

http://www.aafp.org/afp/20020615/practice.html

Laurino, M, RL Bennett, DS Saraiya, et al. 2005. Genetic counseling and evaluation of couples with recurrent miscarriage: Recommendations of the national society of genetic counselors. Journal of Genetic Counseling 4(3):165-181.

Maddalena, Ph.D., CS Richards, Ph.D., et al. 2001. Technical standards and guidelines for Fragile X: The first of a series of disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the american college of medical genetics. Genetics in Medicine. 3(3): 200-205.

The Male Infertility Best Practice Policy Committee of the American Urological Association and The Practice Committee of the American Society for Reproductive Medicine. 2004. Report on evalution of the azoospermic male. Fertility and Sterility 82(Suppl 1): S131.

McConkie-Rosell, A., Finucane, B., Cronister, A., et al. 2005. Genetic counseling for Fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling,14(4): 249-270.

Key References:

Layman, LC. 2003. Genetic causes of human infertility. Endocrinology and Metabolism Clinics of North America 32:549-572.

Practice Committee for the American Society for Reproductive Medicine. 2004. Information on commonly asked questions about genetic evaluation and counseling for infertile couples. Fertility and Sterility 82(Suppl 1):S97S101.

Shah, K, G Sivapalan, N Gibbons, et al. 2003. The genetic basis of infertility. Reproduction 126:13-25.

Sherman, S, Pletcher, BA, and Driscoll DA. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7(8): 584-587.

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

Smith, S, SM Pfeifer, and JA Collins. 2003. Diagnosis and Management of Female Infertility. JAMA 290(13):1767-1770.

Turek, PJ, RA Reijo Pera. 2002. Current and future genetic screening for male infertility. Urologic Clinics of North America 29:767-792.

Vicdan A, Vicdan K, Gunalp S, et al. 2004. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. European Journal Obstetrics & Gynecology and Reproductive Biology 10;117(1):49-54.

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 testing 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. Your patient will use the voucher included in the testing kit for a blood draw at a local LabCorp patient service center. LabCorp will send the sample directly to the testing lab.

  5. 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.

  6. 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: February 8, 2007