Endocrino-NGS

Doenças endócrinas - sequenciamento - 262 genes

Painel ampliado para a investigação de genes previamente associados a hipogonadismo hipogonadotrófico congênito, diabetes monogênico (MODY), restrição de crescimento intrauterino, anormalidade de IGF, resistência à insulina, diabetes de início precoce, diabetes neonatal, hipotiroidismo congênito, entre outros.

AAAS, AARS2, ABCC8, AGPAT2, AIRE, AKT2, ALMS1, AMMECR1, ANKRD11, ANOS1, APPL1, AR, ARL6, ARX, ATRX, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BMP15, BRAF, BSCL2, CASR, CAVIN1, CBL, CCDC8, CDC6, CDKN1C, CDT1, CEL, CENPJ, CHD7, CISD2, CLPP, CREBBP, CRIPT, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DCAF17, DHCR7, DHH, DNAJC3, DUOX2, DUOXA2, DYRK1B, EIF2AK3, EIF2B5, EIF2S3, EP300, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FEZF1, FGD1, FGF8, FGFR1, FOXE1, FOXL2, FOXP3, FSHB, FSHR, GALT, GATA3, GATA4, GATA6, GCK, GCM2, GH1, GHR, GHRHR, GLI2, GLI3, GLIS3, GLUD1, GNA11, GNAS, GNRH1, GNRHR, HADH, HAMP, HDAC8, HESX1, HFE, HJV (HFE2), HFM1, HNF1A, HNF1B, HNF4A, HRAS, HSD17B3, HSD17B4, HSD3B2, IER3IP1, IGF1, IGF1R, IGFALS, IGSF1, IL17RD, IL2RA, INS, INSR, IRS4, IYD, KCNJ11, KDM6A, KISS1R, KLB, KMT2D, KRAS, LARS2, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LIG4, LIPE, LMNA, LRBA, MAMLD1, MAP2K1, MAP2K2, MAP3K1, MC2R, MC4R, MCM8, MCM9, MKKS, MKS1, MNX1, MRAP, MYT1L, NBN, NEUROD1, NEUROG3, NIPBL, NKX2-1, NKX2-2, NNT, NOBOX, NR0B1, NR5A1, NRAS, NSMF, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPPA2, PAX6, PAX8, PCBD1, PCNT, PCSK1, PCYT1A, PDX1, PHF6, PIK3R1, PITX2, PLIN1, PMM2, PNPLA6, POLD1, POLG, POMC, POR, POU1F1, PPARG, PPP1R15B, PRKAR1A, PROK2, PROKR2, PROP1, PTF1A, PTH, PTPN11, RAD21, RAF1, RBBP8, RFX6, RIT1, ROR2, RPL10, RPS6KA3, RSPO1, SAMD9, SDCCAG8, SECISBP2, SHOC2, SHOX, SLC16A1, SLC16A2, SLC19A2, SLC26A4, SLC26A7, SLC29A3, SLC2A2, SLC40A1, SLC5A5, SMC1A, SMC3, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SRCAP, SRD5A2, SRY, STAG3, STAR, STAT3, STAT5B, TAC3, TACR3, TBCE, TBL1X, TBX19, TFR2, TG, THRA, THRB, TPO, TRHR, TRIM37, TRMT10A, TSHB, TSHR, TTC8, TWNK, VPS13B, WDR11, WFS1, WRN, WT1, XRCC4, ZBTB20, ZFP57, ZFPM2, ZMPSTE24

40503801

40 a 60 dias úteis

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