Fertility Screening

Benefits

Process

Sample collection typically involves a blood or saliva sample from the patient. This is a simple, minimally invasive procedure that can be performed alongside other fertility assessments.

DNA is analyzed using advanced sequencing technologies, such as Whole Exome Sequencing (WES), enabling simultaneous investigation of hundreds of relevant genes.

Results are compiled in a report highlighting any genetic findings along with recommendations for further clinical management or treatment.

FOR LABORATORIES

Male infertility

Methodology

• Next-Generation Sequencing (NGS)
• Full coding region sequencing with exon–intron boundary coverage
• Copy Number Variation (CNV) analysis
• ACMG/AMP variant classification guidelines
• Clinical-grade bioinformatics pipeline

Turnaround Time

6–9 weeks

Specimen Requirements

• 2–4 mL peripheral blood (EDTA)

  OR

• 1 µg purified genomic DNA (100–250 ng/µL)
• A260/A280 ratio: 1.8–2.0
• Verified integrity by agarose gel electrophoresis

AZF Microdeletion Analysis (Y Chromosome)

Test Description

Detection of microdeletions in the AZFa, AZFb, and AZFc regions (Yq11.21–q11.23), which are a major genetic cause of non-obstructive azoospermia and severe oligozoospermia.

Clinical Utility

• Identification of Y-chromosome microdeletions
• Important for ART counseling
• Assessment of transmission risk to male offspring

Klinefelter Syndrome Testing

Test Description

Molecular testing for detection of sex chromosome aneuploidy consistent with 47,XXY (Klinefelter syndrome), a common genetic cause of primary testicular failure.

Clinical Relevance

• Small testes
• Hypergonadotropic hypogonadism
• Reduced testosterone levels
• Azoospermia or severe oligozoospermia

Indications for Male Genetic Testing

• Confirmatory testing of suspected genetic infertility
• Exclusion of non-genetic causes (environmental, hormonal, infectious, varicocele)
• Phenotype suggestive of syndromic infertility
• Non-obstructive azoospermia or severe oligozoospermia
• Prior to assisted reproductive technology (ART)

Female infertility

Methodology

• NGS with CNV analysis
• Full coding region sequencing
• ACMG/AMP variant interpretation

Turnaround Time

6–9 weeks

Specimen Requirements

• 2–4 mL peripheral blood (EDTA) OR
• 1 µg purified genomic DNA
• A260/A280 ratio 1.8–2.0
• DNA integrity verified

Indications for Female Genetic Testing

• Primary ovarian insufficiency
• Recurrent pregnancy loss
• Suspected genetic infertility after standard evaluation
• ART candidates with suspected genetic component
• Risk assessment for transmission of genetic disease

Clinical Considerations

Female infertility is multifactorial and may involve:

• Ovarian reserve dysfunction
• Oocyte maturation abnormalities
• Hormonal signaling defects
• PCOS (5–20% prevalence)
• Endometriosis (7–10% prevalence)
• Chromosomal abnormalities
• Submicroscopic deletions/duplications
• DNA sequence variants affecting reproductive biology

Genetic testing supports individualized treatment strategies and informed reproductive counseling.

How it works

After sample collection, the material is sent to the laboratory for DNA extraction and sequencing. The genetic analysis targets panels of genes associated with fertility, hormonal function, and reproductive health.

The laboratory interprets the results and assesses the clinical significance of findings. Genetic counseling may be offered to help patients understand their results and implications.

The report is delivered to the ordering clinic, which communicates the findings to the patient and plans subsequent evaluation or treatment.

FOR LABORATORIES

Male Factor Infertility – Comprehensive NGS Panel

Test Description

The Male Infertility Panel is a comprehensive germline NGS-based assay designed to identify pathogenic and likely pathogenic variants associated with:

• Spermatogenic failure
• Azoospermia and oligozoospermia
• Asthenozoospermia and teratozoospermia
• Disorders of sexual development
• Hypogonadotropic hypogonadism
• Congenital absence of the vas deferens
• Hormonal regulation defects
• Primary ciliary dyskinesia-associated infertility

The panel analyzes genes involved in spermatogenesis, meiosis, DNA repair, hormonal signaling, gonadal development, and sperm motility.

Genes Analyzed

Includes (but not limited to):

AK7, ADGRG2, AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, AXL, BMP4, BNC2, BRDT, CASR, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP69, CFTR, CYP17A1, CYP11B1, DDX25, DMC1, DMRT1, DNAH1, DNAH11, DNAH5, DNAH6, DNAI1, DPY19L2, DUOX1, DUOX2, DUOXA2, FANCM, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXE1, FSHB, FSHR, FSIP2, GCM2, GHR, GLIS3, GNAS, GNRH1, GNRHR, HESX1, HSD3B2, HS6ST1, IGSF1, IL17RD, INSL3, IRS4, IYD, KISS1R, KLHL10, LHB, LHX3, LHX4, LRRC6, MAGEB4, MAMLD1, M1AP, MEI1, MEIOB, NANOS1, NKX2-1, NKX2-5, NLRP14, NR5A1, NR0B1, NSMF, OTX2, PANK2, PAX8, PDE3A, PLCZ1, PMFBP1, POU1F1, PPP2R3C, PROK2, PROKR2, PROP1, QRICH2, RNF212, RSPO1, SECISBP2, SEMA3A, SEPTIN12 (SEPT12), SLC26A4, SLC26A8, SLC5A5, SLC9A3, SOHLH1, SOX10, SOX2, SOX3, SOX8, SOX9, SPATA16, SPINK2, SRA1, SRD5A2, STAG3, STX2, SUN5, SYCE1, SYCP3, TAC3, TACR3, TAF4B, TBL1X, TDRD9, TEX11, TEX14, TEX15, TG, THRA, THRB, TPO, TRH, TRHR, TRIM37, TSGA10, TSHB, TSHR, TTC21A, TTF1, USP26, USP9Y, UTP14C, WDR11, WDR66, XRCC2, ZMYND15.

Female Infertility – Comprehensive NGS Panel

Test Description

The Female Infertility Panel evaluates genes associated with:

• Primary ovarian insufficiency (POI)
• Ovarian dysgenesis
• Oocyte maturation defects
• Recurrent pregnancy loss
• Gonadotropic dysfunction
• Disorders of sexual development
• Implantation failure

The panel also includes FMR1 analysis (including CGG trinucleotide repeat expansion).

Genes Analyzed

ANOS1, AR, AXL, BMP15, BMP4, CASR, CCDC141, CFTR, CLPP, CPEB1, DUOX1, DUOX2, DUOXA2, DUSP6, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ERCC6, ESR1, ESR2, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FIGLA, FLRT3, FMR1 (including CGG repeat expansion), FOXE1, FOXL2, FSHB, FSHR, GCM2, GDF9, GHR, GLIS3, GNAS, GNRH1, GNRHR, HARS2, HESX1, HFM1, HSD17B4, HS6ST1, IGSF1, IL17RD, INHA, IRS4, IYD, KISS1, KISS1R, LARS2, LHCGR, LHB, LHX3, LHX4, LHX8, MCM8, MCM9, MRPS22, MSH5, MTHFR, NANOS3, NKX2-1, NKX2-5, NLRP2, NLRP5, NOBOX, NR0B1, NR5A1, NSMF, NUP107, OTX2, PADI6, PATL2, PAX8, PDE3A, PLCZ1, POLR3B, POU1F1, PROC, PROK2, PROKR2, PROP1, PROS1, PSMC3IP, SECISBP2, SEMA3A, SERPINC1, SERPINE1, SLC26A4, SLC5A5, SMC1B, SOHLH1, SOX10, SOX2, SOX3, SPIDR, SPRY4, SRA1, STAG3, SYCE1, SYCE3, SYCP3, TAC3, TACR3, TBL1X, TG, THBD, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, TTF1, TUBB8, WDR11, WEE2, WNT4, WT1, ZP1, ZP2, ZP3.