Infertility Genetics
For the couple who have been trying to conceive. This guide works through the genetic causes of infertility in both partners: a karyotype and Y chromosome microdeletion test for a low or absent sperm count, CFTR testing when the vas deferens is absent, and a karyotype and fragile X test when her ovaries are failing early. It follows the 2025 Australian male infertility guidelines and the 2024 international guideline on premature ovarian insufficiency.
Enter his semen analysis and her cycles, and sketch both families. The guide shows which tests you can order now, who usually orders the rest, what each one costs, and what a result would change, with a summary for your notes or a referral.
When the guide suggests referral, or you would like the couple seen together, refer to us. Tick Format as referral above the summary and it is set out as a referral letter to either of us, ready to paste into your practice software.What it covers
Which genetic tests apply to an infertile couple, following the first Australian evidence-based guidelines on male infertility (2025) and the international guideline on premature ovarian insufficiency (2024). For him: a karyotype when the sperm concentration is under 10 million/mL, Y chromosome microdeletion testing offered under 5 million/mL and done under 1 million/mL or with no sperm, and CFTR testing when the vas deferens is absent or blocked. For her: a karyotype, an FMR1 premutation test and adrenal antibodies when ovarian insufficiency is confirmed before 40. For both: carrier screening before treatment, and what the family history adds.
Questions it answers
When should a man with a low sperm count have a karyotype?
When is Y chromosome microdeletion testing needed, and what does a result mean?
What does an absent vas deferens mean, and who should have CFTR testing?
What genetic tests does a woman with premature ovarian insufficiency need?
Is fragile X testing rebated for early menopause?
When are genetic tests not needed for unexplained infertility?