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What Is Fertiscan?

FertiScan® is a group of tests that investigate genetic changes associated with female and male infertility. The relevant genes are examined by Next-Generation Sequencing (NGS).

The test can help explain the cause of infertility, plan assisted reproductive treatment and evaluate possible hereditary risks. Approximately 10-15% of male infertility cases and approximately 8-10% of female infertility cases may be associated with genetic changes. Chromosomal abnormalities and Y chromosome microdeletions are not detected by an NGS panel; if the sperm count is below 5 million/mL, karyotyping and Y microdeletion (AZF) testing should be performed first.

Who Can It Be Recommended For?

  • ✓ Couples having difficulty conceiving
  • ✓ Those with unexplained infertility
  • ✓ Those with repeated insemination or IVF failure
  • ✓ Those with recurrent pregnancy loss
  • ✓ Women diagnosed with premature ovarian insufficiency or low ovarian reserve
  • ✓ Those with problems in oocyte maturation or embryo development
  • ✓ Men with azoospermia, oligospermia, or sperm motility or morphology disorders
  • ✓ Those with a family history of infertility or early menopause
About

FertiScan Female Infertility Panels

General Female Infertility PanelNGS Panel

  • A comprehensive next-generation sequencing (NGS) panel that investigates both common and rare genetic causes of female infertility. It analyzes more than 70 genes associated with primary ovarian insufficiency, ovarian dysfunction, ovarian dysgenesis, oocyte maturation defects, early embryonic development disorders and recurrent pregnancy loss.
  • ANXA5, BMP15, C4BPA, CAPN10, CD46, CEP250, CGB, CLPP, CYP11A1, CYP17A1, CYP19A1, CYP21A2, DIAPH2, EIF2B2, EIF2B4, EIF2B5, ERCC6, ESR1, ESR2, FANCM, FIGLA, FLJ22792, FMR1, FOXL2, FOXP3, FSHB, FSHR, GALT, GDF9, GNRH1, GNRHR, HARS2, HFM1, HLA-G, HSD17B4, IRS1, KHDC3L, KISS1, KISS1R, LARS2, LHB, LHCGR, LHR, MCM8, MCM9, MRPS22, MSH5, NALP7, NLRP10, NOBOX, NR5A1, NUP107, OSBPL5, PADI6, PATL2, PMM2, POF1B, PROKR1, PSMC3IP, SOHLH1, STAG3, SYCE1, SYCP3, TACR3, TLE6, TUBB8, C10orf2, WEE2, WNT6, ZP1, ZP3

    Primary Ovarian Insufficiency / Ovarian DysfunctionNGS Panel

    • A comprehensive next-generation sequencing (NGS) panel that evaluates genetic causes associated with conditions such as early menopause, low ovarian reserve, menstrual irregularity and poor response to ovarian stimulation.
    • BMP15, CLPP, CYP17A1, CYP19A1, DIAPH2, EIF2B2, EIF2B4, EIF2B5, ERCC6, FANCM, FIGLA, FLJ22792, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, GNRH1, GNRHR, HARS2, HFM1, HSD17B4, KISS1, KISS1R, LARS2, LHB, LHCGR, LHR, MCM8, MCM9, MRPS22, MSH5, NOBOX, NUP107, NR5A1, C10orf2, PATL2, PMM2, POF1B, PSMC3IP, SOHLH1, STAG3, SYCE1, TACR3, TUBB8, ZP1, ZP3, WEE2

      Ovarian DysgenesisNGS Panel

      • A next-generation sequencing (NGS) panel that evaluates genetic causes associated with developmental and functional disorders of the ovaries.
      • BMP15, FSHR, MCM9, MRPS22, NUP107, C10orf2, PSMC3IP, SOHLH1, HSD17B4, HARS2, STAG3

        Oocyte Maturation DisorderNGS Panel

        • A next-generation sequencing (NGS) panel that analyzes genes associated with failure of retrieved eggs to mature, recurrent fertilization failure, or arrest of early embryonic development.
        • PATL2, TUBB8, ZP1, ZP3, WEE2

          Preimplantation Embryonic LethalityNGS Panel

          • A next-generation sequencing (NGS) panel that analyzes genes associated with arrest of embryonic development after fertilization, before the embryo implants in the uterus.
          • PADI6, TLE6, KHDC3L

            Recurrent Pregnancy LossNGS Panel

            • A comprehensive next-generation sequencing (NGS) panel that analyzes 14 genes that may be associated with recurrent pregnancy loss.
            • ANXA5, C4BPA, CD46, CEP250, CGB, FOXP3, HLA-G, KHDC3L, NALP7, NLRP10, OSBPL5, PROKR1, SYCP3, WNT6
            • The standard evaluation consists of karyotyping, antiphospholipid antibodies, thyroid tests and uterine imaging; this panel is not routinely recommended.

              Polycystic Ovary SyndromeNGS Panel

              • A next-generation sequencing (NGS) panel that evaluates certain genetic variants associated with polycystic ovary syndrome (PCOS). The test alone neither establishes nor excludes a diagnosis of PCOS.
              • CAPN10, IRS1

                Ovarian Stimulation Response / Ovarian HyperstimulationNGS Panel

                • A next-generation sequencing (NGS) panel that evaluates genetic factors associated with the response of the ovaries to stimulating medications in IVF treatment.
                • CYP19, ESR1, ESR2, FSHR, IRS1

                  FertiScan Male Infertility Panel

                  General Male Infertility PanelNGS Panel

                  • A comprehensive next-generation sequencing (NGS) panel that analyzes 50 genes associated with azoospermia, reduced sperm count, motility disorders, abnormal sperm morphology, and spermatogenesis and fertilization defects.
                  • ADGRG2, AK7, AKR1C4, AR, AURKC, BRDT, CATSPER1, CATSPER2, CFAP43, CFAP44, CFAP69, CFTR, DNAH1, DNAH6, DPY19L2, FANCM, FSHB, FSHR, GALNTL5, GATA4, HSF2, KLHL10, LHCGR, MAMLD1, MEIOB, NANOS1, NPAS2, NR0B1, NR5A1, PLCZ1, PMFBP1, RXFP2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPGF2, SPINK2, SRY, SUN5, SYCE1, SYCP3, TAF4B, TDRD9, TEX11, TEX14, TEX15, TSGA10, ZMYND15

                    About

                    How Is the Test Performed?

                    Approximately a 3 mL blood sample is taken. After DNA is obtained, the coding regions of the relevant genes are analyzed by NGS. This panel cannot detect the FMR1 CGG repeat expansion; a separate PCR-based repeat analysis is required for Fragile X.

                    The turnaround time is approximately 15-20 working days.

                    What Do the Results Mean?

                    A positive result may indicate that a genetic change associated with infertility has been detected, and it may influence the treatment plan, the tests to be performed on the partner, or the need for genetic counseling.

                    A negative result indicates that no explanatory change was found in the genes examined; however, it does not rule out all genetic and non-genetic causes of infertility.

                    FertiScan does not replace hormone tests, ultrasound, semen analysis, karyotyping and other infertility investigations. Results should be evaluated together with clinical findings.
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