Infertility Genetic Panel

Genetic causes of infertility

14 business daysNGS Panel on Illumina PlatformBlood (EDTA tube)

What is this test?

Our Infertility Genetic Panel is a comprehensive test analyzing over 100 genes associated with male and female infertility. From premature ovarian insufficiency and azoospermia to recurrent pregnancy loss, this panel can uncover the genetic basis of reproductive challenges that standard fertility workups may miss. Results guide personalized fertility treatment decisions including IVF, donor gametes, or targeted interventions.

Key Benefits

Explain Unexplained Infertility

Up to 30% of infertility cases are labeled 'unexplained' after standard workup. Genetic testing can identify a molecular cause in a significant proportion of these cases.

Guide IVF Strategy

Certain genetic causes predict poor response to ovarian stimulation or low sperm retrieval rates, helping set realistic expectations and choose optimal protocols.

Assess Recurrence Risk

For couples with recurrent pregnancy loss, identifying a genetic cause helps determine if the issue is likely to recur and what interventions may help.

Inform Donor Gamete Decisions

When genetic testing reveals a cause of gamete failure (e.g., complete Y-chromosome AZF deletion), it provides clarity that donor gametes may be the most effective path to parenthood.

How It Works

Fertility Specialist Referral

Your reproductive endocrinologist or urologist evaluates your fertility workup and orders genetic testing.

Simple Blood Draw

A standard blood sample is collected. Both partners can be tested simultaneously.

Reproductive Gene Sequencing

100+ infertility genes are sequenced with deep coverage, including CNV analysis for key loci like AZF deletions on the Y chromosome.

Reproductive Genetics Interpretation

Variants are reviewed by molecular geneticists specializing in reproductive genetics, with correlation to clinical fertility parameters.

Fertility-Focused Report

Report includes molecular diagnosis, prognosis for natural conception, IVF outcome predictions, and whether donor gametes should be considered.

Who should consider this test?

Couples with unexplained infertility after standard workup
Women with premature ovarian insufficiency or diminished ovarian reserve
Men with non-obstructive azoospermia or severe oligospermia
Couples with recurrent pregnancy loss (two or more miscarriages)
Individuals with a family history of early menopause or infertility

Conditions Screened

Premature ovarian insufficiency (FMR1, BMP15, FOXL2, NR5A1)Y-chromosome microdeletions (AZFa, AZFb, AZFc)Congenital bilateral absence of vas deferens (CFTR-related)Non-obstructive azoospermia genesRecurrent pregnancy loss genesOocyte maturation defectsSperm motility/morphology defects (DNAH, CFAP genes)Disorders of sex development affecting fertility

Accuracy & Clinical Evidence

Test Accuracy

>99% analytical sensitivity for SNVs and small indels in targeted coding regions

Y-chromosome microdeletion testing is recommended by the AUA/ASRM for all men with non-obstructive azoospermia or severe oligospermia. AZFa and AZFb deletions predict absent spermatogenesis with near certainty, guiding the decision against surgical sperm retrieval. FMR1 premutation screening is recommended for women with premature ovarian insufficiency.

Scientific Detail

Male infertility genes span spermatogenesis (TEX11, SYCP3), sperm motility (DNAH1, CFAP43/44), and hormone signaling. Female infertility genes cover oogenesis (NOBOX, FIGLA), folliculogenesis (BMP15, GDF9), and implantation. Y-chromosome AZF analysis uses calibrated read-depth across the Yq11 region. CFTR analysis follows ACMG 23-mutation panel plus full gene sequencing.

For Healthcare Providers

This panel covers 100+ genes for male and female infertility, including AZF deletion analysis via read-depth and breakpoint detection, CFTR mutation screening, and FMR1 CGG repeat sizing (reflex to Southern blot for expansions). Sequencing on Illumina platform with >100x coverage. Karyotype analysis is recommended as a complementary test.

Important Limitations

Chromosomal causes of infertility (e.g., balanced translocations, Robertsonian translocations) require karyotype analysis and are not detected by NGS.
FMR1 CGG repeat expansions above the NGS detection range are reflexed to Southern blot, which may add processing time.
Epigenetic and environmental factors contributing to infertility are not assessed.
Variants of uncertain significance may be reported; parental testing may aid in reclassification.
This panel does not assess uterine, tubal, or endometrial factors — these require clinical evaluation.