Płodność

Niepłodność Kobieta

AARS2; AIRE; AMH; AMHR2; ANXA5; AR; ATG7; ATG9A; ATM; AXL; BLM; BMP15; BRCA2; BTG4; BUB1B; C10orf2; C11orf80; C15orf60; CCDC141; CCDC39; CHD7; CLPP; CPEB1; CYP17A1; CYP21A2; DAZL; DCAF17; DDX11; DIAPH2; DUSP6; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EIF4ENIF1; EMX2; ERAL1; ERCC2; ERCC3; ERCC4; ERCC6; ESR1; ESR2; F2; F5; FANCA; FBXO43; FEZF1; FGF17; FGF8; FGFR1; FIGLA; FLRT3; FOXL2; FSHB; FSHR; GALT; GATA4; GDF9; GNRH1; GNRHR; H6PD; HARS2; HAX1; HFM1; HNF1B; HOXA13; HS6ST1; HSD11B1; HSD17B4; IL17RD; INHA; KAL1; KHDC3L; KISS1; KISS1R; LARS2; LHB; LHCGR; LHX1; LHX8; LHX9; LMNA; MCM8; MCM9; MEI1; MKKS; MRPS22; MSH5; NANOS3; NBN; NLRP2; NLRP5; NLRP7; NOBOX; NR0B1; NR3C1; NR5A1; NSMF; NUP107; PADI6; PATL2; PAX2; PAX8; PGM1; PGRMC1; PMM2; PNPLA6; POF1B; POLG; POLR3H; POU5F1; PPARG; PRLR; PROK2; PROKR2; PROP1; PSMC3IP; RCBTB1; REC8; RNF216; SEMA3A; SGOL2; SLC29A3; SMC1B; SOHLH1; SOHLH2; SOX10; SOX8; SPIDR; SPRY4; STAG3; SYCE1; SYCP3; TAC3; TGFBR3; TLE6; TP63; TRIM37; TRIP13; TUBB8; WDR11; WEE2; WNT4; WNT7A; WNT9B; WRN; WT1; XPA; XPC; XRCC2; XRCC4; ZP1; ZP2; ZP3

Niepłodność Mężczyzna

AMH; AMHR2; APOA1; AR; AURKC; BLM; BNC2; C7orf63; CCDC141; CCDC39; CCDC40; CDC14A; CEP290; CFTR; CHD7; CYP11A1; CYP11B1; CYP17A1; CYP19A1; CYP21A2; DAZL; DCC; DMRT1; DNAAF2; DNAH1; DPY19L2; DUSP6; DYX1C1; ESR2; FANCA; FANCM; FBXO43; FGF8; FGFR1; FSHB; FSHR; GATA4; GNRH1; GNRHR; GPR64; HS6ST1; HSD17B3; HSD3B2; HSF2; IGF2; IL17RD; INSL3; KAL1; KISS1; KLHL10; LHB; LHCGR; LRRC6; MAMLD1; MCM9; NLRP3; NR0B1; NR5A1; PIH1D3; PKD1; PLCZ1; PLXNA1; PMFBP1; PROK2; PROKR2; RSPO1; SEMA3A; SLC29A3; SOX10; SOX2; SOX3; SOX9; SPATA16; SRD5A2; SRY; SUN5; SYCP3; TACR3; TEX11; TEX15; TRIM37; WDR11; WDR52; WDR66; WDR96; WT1; XRCC2

Ocena prokreacyjna partnerów (badanie całoeksomowe jednej osoby, WES)

Pierwotna niewydolność jajników (POI lub POF)

AMH; AMHR2; BMP15; FIGLA; FOXL2; FSHR; GDF9; HFM1; LHCGR; MCM8; MCM9; NOBOX; NR5A1; PSMC3IP; SOHLH1; SOHLH2; STAG3; SYCE1

Pierwotny brak miesiączki

AMH; AMHR2; BMP15; CYP17A1; CYP19A1; ESR1; FGFR1; FIGLA; FOXL2; FSHR; GDF9; HFM1; KISS1; KISS1R; LHB; LHCGR; MCM8; MCM9; NOBOX; NR5A1; PROK2; PROKR2; PSMC3IP; SEMA3A; SOHLH1; SOHLH2; STAG3; SYCE1; TAC3; TACR3; WDR11