Cáncer de Páncreas Hereditario / Pancreatitis Recurrente
Genes SNVs | Screening CNVs |
APC, ATM, BMPR1A, BRCA1, BRCA2, CASR, CDK4, CDKN2A, CEL, CFTR, CPA1, CTRC, MLH1, MSH2, MSH6, PALB2, PMS2, PNLIP, PRSS1, SMAD4, SPINK1, STK11, TP53 | APC, ATM, BMPR1A, BRCA1, BRCA2, CDK4, CDKN2A, CFTR, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SMAD4, STK11, TP53 |
Deficiencia Combinada Hormona Pituitaria
Genes SNVs |
HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1 |
Desórdenes de Diferenciación Sexual
Genes SNVs |
AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARX, ATRX, CBX2, CHD7, CTNNB1, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DAZ1, DAZ2, DAZ3, DAZ4, DHCR7, DHH, DMD, DMRT1, FGD1, FGF10, FGF8, FGF9, FGFR1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA4, GK, GNRH1, GNRHR, GRIP1, HESX1, HOXA13, HS6ST1, HSD17B3, HSD3B2, INSL3, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX1, LHX3, LHX4, MAMLD1, MAP3K1, MID1, NR0B1, NR3C1, NR5A1, NSMF, OTX2, PCSK1, POR, POU1F1, PROK2, PROKR2, PROP1, PTEN, ROR2, RSPO1, RXFP2, SALL1, SEMA3A, SOX10, SOX3, SOX8, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TSPYL1, USP9Y, WDR11, WNT4, WNT5A, WT1, WWOX, ZFPM2, ZFY, ZIC3 |
Diabetes tipo Mody
Genes SNVs | Screening CNVs |
BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 | CEL, HNF1A, HNF1B, HNF4A, GCK |
Hiperaldosteronismo Primario
Genes SNVs |
KCNJ5, CACNA1H, CACNA1D, CLCN2 |
Hiperglucemia Hiperinsulinémica - Diagnóstico diferencial
Genes SNVs |
ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1 |
Hiperinsulinismo Familiar
Genes SNVs |
ABCC8, GCK, GLUD1, HADH, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 |
Hiperparatiroidismo
Genes SNVs | Screening CNVs |
CDC73, CDKN1A, CDKN1B, CDKN2C, GCM2, MEN1, RET, GNA11, AP2S1, CASR, PTH1R | CDC73 |
Hipogonadismo Hipogonadotrófico
Genes SNVs |
ANOS1, CHD7, CUL4B, DCAF17, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, HAMP, HESX1, HFE, HS6ST1, IL17RD, KISS1, KISS1R, KLB, LHB, LHCGR, LHX3, LHX4, NR0B1, NSMF, PROK2, PROKR, PROP1, SEMA3A, SEMA3E, SEMA7A, SLC29A3, SLC40A1, SOX10, SOX2, SOX3, SPRY4, TAC3, TACR3, TFR2, WDR11, STS |
Hipoparatiroidismo
Genes SNVs |
AIRE, AP2S1, CASR, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PTH, PTH1R, SOX3, STX16, TBCE |
Hipotiroidismo Congénito
Genes SNVs |
TSHB |
Insuficiencia Suprarrenal
Genes SNVs |
AAAS, MC2R, MRAP, NNT, NR3C1, POMC, STAR |
Osteopetrosis
Genes SNVs |
AMER1, CA2, CLCN7, CSF1R, CTSK, FERMT3, HMGA2, LEMD3, OSTM1, PLEKHM1, SLC29A3, SNX10, TCIRG1, TNFRSF11A, TNFSF11 |
Pancreatitis Recurrente
Genes SNVs | Screening CNVs |
CASR, CFTR, CTRC, PRSS1, SPINK1, CEL, PNLIP, CPA1 | CFTR, PRSS1 |
Panhipopituitarismo Congénito
Genes SNVs |
POU1F1, PROP1, LHX3 , LHX4, HESX1, OTX2, GH1, SOX2, SOX3, GLI2, PAX6 |
Pseudohipoparatiroidismo
Genes SNVs |
GNAS, STX16 |
Raquitismo Hipofosfatémico Familiar
Genes SNVs |
CLCN5, DMP1, ENPP1, FGF23, OCRL, PHEX, SLC34A3 |
Síndrome de Kallmann
Genes SNVs |
ANOS1, CHD7, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HS6ST1, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SOX10, TAC3, TACR3, WDR11 |
Síndrome de Pendred
Genes SNVs | Screening CNVs |
FOXI1, KCNJ10, SLC26A4 | SLC26A4 |
Síndrome Shwachman-Diamond
Genes SNVs | Screening CNVs |
SBDS | SBDS |
Talla baja/ Retraso de Crecimiento
Genes SNVs | Screening CNVs |
ACAN, ANKRD11, ATR, ATRIP, BLM, BMPR1B, BRAF, BRF1, BTK, CBL, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CHD7, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRIPT, CUL7, DHCR7, DNA2, DVL1, EP300, ERCC6, ERCC8, FBN1, FGD1, FGFR3, GDF5, GHR, GHRHR, HDAC8, HESX1, HRAS, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, KDM6A, KMT2D, KRAS, LARP7, LHX3, LIG4, LMNA, MATN3, MCM9, NBN, NIN, NIPBL, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PCNT, PDE4D, PIK3R1, PITX2, POC1A, PRKAR1A, PTHLH, PTPN11, RAD21, RAF1, RBBP8, RECQL4, RIT1, RNU4ATAC, ROR2, SHOC2, SMARCA1, SMC1A, SMC3, SOS1, SOX2, SOX3, SOX9, SRCAP, STAT5B, TRIM37, WNT5A, XRCC4 | KDM6A, KMT2D |
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