Female Infertility NGS panel
|Genes:||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 (incl CGG trinucleotide 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|
|Lab method:||NGS panel with CNV analysis|
|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
|Ordering information:||Go to online ordering or download sample submission form|
Indications for genetic testing:
- Suspected infertility in women who had already undergone basic clinical analysis and karyotype analysis
- Primary ovarian dysfunction or recurrent fetal loss
- Testing of infertile couples who will be undergoing treatment with assisted reproductive technology (ART), especially a genetic anomaly is found in either one component of the couple
- Evaluation of the risk of disease to be transmitted to the child to be born through ART
Female factors account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes, and fertilization competence as well as the potential of a fertilized egg for preimplantation development, implantation, and fetal growth.
Other factors influencing female infertility include diseases such as polycystic ovarian syndrome (PCOS) and endometriosis, and the cumulative effects of environmental factors and lifestyle. PCOS, the most common cause of infertility is a complex, hormonal and metabolic disorder affecting 5–20% of women of reproductive age. The disease is characterised by hyperandrogenism, ovulatory dysfunction, polycystic ovarian morphology and gonadotropic abnormalities. Endometriosis affects 7–10% of women and is associated with infertility.
Genetic abnormalities leading to infertility in females encompass large chromosome abnormalities, submicroscopic chromosome deletion and duplications, and DNA sequence variations in the genes involved in oogenesis, maintenance of ovarian reserve, hormonal signaling, and anatomical and functional development of female reproductive organs. Genetic abnormalities are implicated in about 10% of female infertility cases.
Dallel, M. et al 2018. Differential association of DENND1A genetic variants with polycystic ovary syndrome in Tunisian but not Bahraini Arab women. Gene 647, 79–84
Day, FR et al 2015. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464.
Foresta, C 2002. Guidelines for the appropriate use of genetic tests in infertile couples. European Journal of Human Genetics, 10(5), 303–312.
Gajbhiye, R et al 2018. Complex genetics of female fertility. Npj Genomic Medicine, 3(1).
Giudice, LC and Kao, LC 2004. Endometriosis. Lancet 364, 1789–1799.
Azziz, R 2016. PCOS in 2015: New insights into the genetics of polycystic ovary syndrome. Nat. Rev. Endocrinol. 12, 183.
Lambalk, CB et al 2017. GnRH antagonist versus long agonist protocols in IVF: a systematic review and meta-analysis accounting for patient type. Hum Reprod.
Lawler, AM and Gearhart, JD 1998. Genetic counselling for patients who will be undergoing treatmnent with assisted reproductive technology. Fertil Steril 70: 412 ± 413.
Norman, RJ et al 2007. Polycystic ovary syndrome. Lancet 370, 685–697.
Venkatesh, T et al 2014. New insights into the genetic basis of infertility. Appl Clin Genet. 2014; 7: 235–243.
Yatsenko, SA and Rajkovic, A 2019. Genetics of human female infertility. Biol Reprod. 2019 Sep 1;101(3):549-566.