FertiScan™

FertiScan™

The most comprehensive genetic test for an innovative approach to male and female infertility causes in couples with reproductive difficulties.

INFERTILITY

A study by the Italian National Institute of Health indicates that infertility involves 15% of couples and equally affects males and females. About 10-15% of male infertility cases and 8-10% of female infertility cases are associated with genetic alterations, which can include chromosomal abnormalities or single gene mutations. 20% of the cases is defined as “idiopathic infertility” because it is not possible to certaintly diagnose the presence of underlying causes.

FertiScan™ is an innovative genetic test for the evaluation of the infertility genetic causes. There are two lines of investigation: FertiScan™ Female Infertility Panel and FertiScan™ Male Infertility Panel

GLOBAL FEMALE INFERTILITY PANEL

Female infertility panel is a test for the evaluation of women’s reproductive health, designed to identify female infertility most common genetic causes and the rarest genetic abnormalities associated with infertility and recurrent miscarriage.

The test includes simultaneous analysis of more than 70 genes for the study of female infertility main causes, including Primary Ovarian Insufficiency, Ovarian dysfunction, Ovarian dysgenesis, Embryonic lethality, Recurrent miscarriage and Oocyte maturation defects.

GLOBAL MALE INFERTILITY PANEL

Male infertility panel is a test for the evaluation of men’s reproductive health, designed to identify male infertility most common genetic causes.

The test includes simultaneous analysis of more than 50 genes for the study of male infertility main causes, including Azoospermia, Asthenospermia and abnormal sperm morphology.

FertiScan™ Female:

Female Fertiscan tests are available in a targeted version for the investigation of specific disorders associated with an increased risk of infertility in women, and in a complete version through the Global Female Infertility Panel.

Fertiscan ™ Global Female Infertility Panel 70 genes

Fertiscan ™ - Primary Ovarian Insufficiency/Ovarian Dysfunction NGS Panel 50 genes FertiScan ™ - Ovarian Dysgenesis NGS panel 11 genes

FertiScan ™ - Preimplantation embryonic lethality NGS Panel 3 genes

FertiScan ™ - Oocyte maturation defect NGS panel 5 genes

Fertiscan ™ - Miscarriage NGS panel 14 genes

Fertiscan ™ - Polycystic Ovary Syndrome 2 genes

Fertiscan ™ - Ovarian Hyperstimulation Syndrome / Ovarian response to Ovarian stimulation 5 genes

FertiScan ™ Male:

FertiScan ™ Global Male Infertility Panel 50 genes

Indication To FertiScan ™:

Conditions of recurrent miscarriage
Couples with reproductive difficulties
Multiple attempts at artificial insemination
Couples who are approaching assisted reproductive technology pathways
Family history of hereditary infertility conditions

About FertiScan

High-Resolution Sequencing Technology

The genes included in the FertiScan™ panels* are entirely sequenced at high reading depth thanks to the use of Next Generation Sequencing (NGS) technologies. The analysis involves the complete study of the coding portion of each gene (full exon sequencing) at high resolution.

How The Test Works:

SAMPLE COLLECTION

DNA EXTRACTION

DNA SEQUENCING Next Generation Sequencing (NGS)

IDENTIFICATION OF DNA MUTATIONS

RESULTS

The genetic sequences obtained are interpreted by an advanced bioinformatic analysis, in order to identify any mutations associated with pathologies in the analyzed genes.

Fertiscan Characteristics

EASY Sample required: blood (3ml)

RELIABLE Sensitivity and specificity >99%

COMPLETE In-depth investigation to identify the genetic causes of infertility

ADVANCED State-of-the-art technologies and sophisticated bioinformatics analysis

Gene’s lists and the descriptions of Fertiscan’s panels

ANALYSIS	GENES/SNPs	DESCRIPTION
Fertiscan^TMGlobal Female Infertility NGS panel	ANXAS, BMP15, C4BPA, CAPN10, CD46, CEP250, CBG, CLPP, CYP1 1A1, CYP 17A1, CYP19A 1, CYP2 A2, DIAPH2, EIF2 B2, EIF2 B4, EIF2 B5, E RCCG, ESR1, ESR2, FANCM, FIGLA, FLK22792, FM1, FOXL2, FOXP3, FSHB, FSHR, GALT, GDP9, GNRH1, GNRHR, HARS2, HFM1, HLA G, HSD1784, IRS1, KHDC3L, KISS1, KISS 1R, LARS2, LHB, LHCGR, LHR, MCM8, MCM9, MRP52 2, MSH5, NALP7, NLRP 10, NOBOX, NRSA1, NUP 107, OSBPL5, PAD16, PATL2, PMM2, PCF1B, PRCKR1, PSMC31P, SCHLH1, STAG3İ SYCE1, SYCP3, TACR3, TLE6, TUBB8, C10ort2, WEE2, WNT6, ZP1, ZP3	Is a comprehensive next generation sequencing (NGS) panel that analyzes 70+ genes associated with female infertility, Including primary ovarian insuttidency, Ovarian Dysfunction, Ovarian Dysgenesis, polycystic ovary syndrome, preimplantation embryonic lethality, errors in folliculogenesis and oocyte maturation detectsi ovarian hyperstimulation syndrome, and recurrent pregnancy loss.
Fertiscan^TMGlobal Male Infertility NGS Panel	ADGRG2, AK7, AKR1CA, AR, AURKC, BRPT, CATSPER1, CATSPER2, CFAP3, CFAP69İ DYP19L2, FANCM, FSHB,FSHB, FSHR, GALNT5, GATA4, HSF2, KLHL10, LHCGR, MAMLD1, MEICB, NANOS1, NPAS4, NROB1, NRSA1, PLCZ1, PMFBP1, RXFP2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPGF2, SPINK2, SRY, SJNS, SYCE1, SYCP3, TAF4B, TDRDP, TEX11, TEX14, TEX15, TSGA10, ZMYND15	Is a multigene panel test for the reproductive health and fertility for men. It reveals genetic factors that are associated with some of the most common reproductive conditions in men. The fertiscanTM global male infertility panel is a comprehensive next generation sequencing (NGS) panel that analyzes 50 genes associated with male infertility.
Fertiscan^TMMiscarriage NGS panel	ANXA5, C4BPA, CD46, CEP250, CGB, FOXP3, HLAG, KHDC3L, NALP7, NLRP 10, OSBPL5, PROKR1, SYCP3, WNT6	Is a comprehensive next generation sequencing (NGS) panel that analyzes 14 genes associated with recurrent pregnancy loss
Fertiscan^TM Oocyte maturation defects NGS Panel	PATL2, TUBB8, ZP1, ZP3, WEE2	Is a comprehensive next generation sequencing (NGS) panel that analyzes 5 genes associated with errors in folliculogenesis and oocyte maturation defects
Fertiscan^TMOvarian Dysgenesis NGS Panel	BMP15, FSH3, MCM9, MRPS22, NUP017, C10ort2, PSMC3IP, SDHLH1, HSD1784, HARS2, STAG3	Is a comprehensive next generation sequencing (NGS) panel that analyzes 11 genes associated with ovarian dysgenesis
Fertiscan^TMOvarian Hyperstimulation Syndrome/Obarian response to Ovarian stimulation	CYP19, ESR1, ESR2, FSHR, IRS1 (Gly972Arg/G2910A)	A panel which investigates 5 genes related to ovary stimulation response
Fertiscan^TM Polycystic Ovary Syndrome	CAPN10, IRS1 (Gly972Arg/G2910A)
Fertiscan^TM Preimplantation embryonic lethality NGS panel	PAD16, TLE6, KHDC3L	Is a comprehensive next generation sequencing (NGS) panel that analyzes genes associated with embryonic lethality
Fertiscan^TM Primary Ovarian Insufficiency/ Ovarian Dysfunction NGS Panel	BMP15, CLPP, CYP 17A1, DIAPH2, EIF2B2, EIF2B4, EIF2B5, ERCC6, FANCM, FIGLA, FLJ22792, FMR1, FOXL2İ FSHBİ FSHEİ GALTİ GDF9, GNRH1, GNRHR, HARS2, HFM1, HSD1784, KISS1, KISS1 R, LARS2, LHB, LHCGR, LHCGR, LHR, MCM8, MCM9, MRPS22, MSH5, NCBOX, NJP107, NRSA1, C10ort2, PAATL2, PMM2, PCF 1B, PSMC31P, SCHLH1, STAG3, SYCE1, TACR3, TUBB 8, ZP1, ZP3, WEE2	Is a comprehensive next generation sequencing (NGS) panel that analyzes 50+ genes associated with primary ovarian insufficiency and ovarian dysfunction