Table 1

Table 1. Genes associated with female and male infertility included in the NGS panel. Genes in bold font have proven associations with infertility (diagnostic genes). Candidate genes are shown in normal font
FEMALE CONDITIONS		MALE CONDITIONS
Primary ovarian insufficiency	BMP15, ESR1, FGFR1, FIGLA, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, HFM1, KISS1R, LHB, MCM8, MCM9, NOBOX, NR5A1, POF1B, PSMC3IP, SOHLH1, STAG3, SYCE1, DIAPH2, DMC1, FOXO3, LHCGR, LHX8, MSH4, NANOS3, PGRMC1, REC8, SMC1B	Non-obstructive azoospermia/ Severe oligospermia	AR, AZF, FGFR1, FSHB, KAL1/ANOS1, KISS1R, KLHL10, LHB, NANOS1, NR5A1, SOHLH1, SYCE1, SYCP3, TAF4B, TEX11, TEX15, USP9Y, ZMYND15, HSF2
Oocyte maturation defects	TUBB8, ZP1	Obstructive azoospermia	*ADGRG2, CFTR*
Embryo development arrest	PADI6, TLE6	Oocyte activation failure	*PLCZ1*
Ovarian hyperstimulation syndrome	FSHR, AMH, AMHR2, CAPN10, DENND1A, GDF9 LHCGR, SULT2A1, THADA	Asthenozoospermia	CATSPER1, DNAH1, DNAH5, DNAI1 SEPT12, SLC26A8, SUN5, CATSPER2 GALNTL5
Recurrent pregnancy loss	F2, F5, MTHFR, PROC, PROS1 SERPINC1, SYCP3	Sperm morphology alterations	AURKC, DPY19L2, SEPT12 SPATA16, SUN5, PICK1, ZPBP
	Hormone receptors*	*AR, ESR1, FSHR, LHCGR*
* Hormone receptors are evaluated in both panels.