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Obesity, congenital deficiency melanocortin 4 receptor
Gene: MC4R
Non-syndrome disorder of sex development in 46, XY, type 2
Gene: DAX1 (NR0B1)
NGS analysis - Premature ovarian failure
Gene: AARS2, BMP15, CLPP, CYP17A1, CYP19A1, DIAPH2, EIF2B1, EIF2B2, EIF2B4, EIF2B5, ERCC6, ESR1, ESR2, FANCM, FIGLA, FOXL2, FSHB, FSHR, GALT, GDF9, HARS2, HFM1, HSD17B4, LARS2, LHCGR, LMNA, MCM8, MCM9, MRPS22, MSH5, NOBOX, NR5A1, NUP107, POF1B, PSMC3IP, RCBTB1, SOHLH1, STAG3, TWNK, XRCC2, ZP1
NGS analysis - Sexual development diseases
Gene: AKR1C2, AMHR2, AR, ATRX, CBX2, CHD7, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, DMRT1, ESR2, FRAS1, FREM2, H6PD, HSD11B1, HSD17B3, HSD3B2, KISS1R, LHCGR, MAMLD1, MAP3K1, MKRN3, NR0B1, NR2F2, NR5A1, POLE, POR, PSMC3IP, RPL10, RSPO1, SAMD9, SEMA3E, SOX9, SPECC1L, SRD5A2, SRY, STAR, TOE1, TSPYL1, TWIST2, WNT4, WT1, ZFPM2
NGS analysis - Hypogonadotropic hypogonadism (Kallmann syndromes)
Gene: ANOS1, AXL, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, POLR3B, PROK2, PROKR2, RNF216, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11
MODY, type 5
Gene: HNF1B_MLPA
MODY, type 5
Gene: HNF1B
MODY,type 2
Gene: GCK_MLPA
MODY,type 2
Gene: GCK
MODY, type 3
Gene: HNF1A_MLPA
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