Male Factor Infertility
NGS panel

Genes: 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

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

AZF deletions

Lab method: PCR, gel electrophoresis
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Klinefelter Syndrome

Lab method: PCR, gel electrophoresis
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

    1. Confirmation of suspected diagnosis
    2. Reasons other than genetic have been ruled out (environment and lifestyle related reasons, medical reasons that include hormone imbalance, infections, varicocele)
    3. Patient’s phenotype is indicative of a syndrome or condition associated with genetic male infertility (for example, small testicles and lower testosterone levels in case of Klinefelter syndrome)

Infertility is a widespread medical problem, affecting the lives of 15–20% of couples, with male factor infertility occurring in almost half of the cases. Unfavourable genetic background is thought to be the cause in 15–30% of male factor infertility cases. Main genetic causes of male infertility are numerical and structural chromosomal aberrations of sex and autosomal chromosomes; meiotic defects; microdeletions in the region q11.21-23 of the Y-chromosome; mutations in the CFTR gene and genetically determined syndromes in which infertility is a symptom. The correct determination of the genetic basis of infertility is important for further care of patients.