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Endocrine diseases

CHRONIC PANCREATITIS: 11 genes – Delivery time: 3-4 weeks

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, PRSS1, SBDS, SPINK1, UBR1

COMBINED PITUITARY HORMONE DEFICIENCY: 10 genes – Delivery time: 3-4 weeks

GHR, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3

CONGENITAL ADRENAL HYPERPLASIA (NEGATIVE CYP21A2): 11 genes – Delivery time: 3-4 weeks

ARMC5, CYP11A1, CYP11B1, CYP11B2, CYP17A1, HSD3B2, PDE11A, PDE8B, POR, PRKAR1A, STAR

CONGENITAL HYPOTHYROIDISM AND THYROID HORMONE RESISTANCE: 39 genes – Delivery time: 3-4 weeks

AIRE, CASR, DUOX2, DUOXA2, FOXE1, FOXP3, GCM2, GLIS3, GNAS, HESX1, IGSF1, IRS4, IYD, KDM6A, KMT2D, LHX3, LHX4, LIG4, NKX2-1, NKX2-5, OTX2, PAX8, POU1F1, PRKAR1A, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, UBR1

DIABETES AND OBESITY: 277 genes – Delivery time: 3-4 weeks

ABCA1, ABCC8, ABCG5, ABCG8, ACAT1, ACSF3, ADCY3, ADRB2, ADRB3, AFF4, AGL, AGRP, AIP, AIRE, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, AQP2, ARL13B, ARL6, ARMC5, ATP6V0A2, AVP, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLK, C8orf37, CANT1, CARTPT, CC2D2A, CCDC28B, CEL, CEP164, CEP19, CEP290, CETP, CHD2, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, CP, CPE, CREBBP, CUL4B, CYP27A1, DCAF17, DDOST, DHDDS, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EHMT1, EIF2AK3, EIF2B1, EIF2S3, ENO3, ENPP1, EPM2A, FBP1, FOXP3, G6PC, GAA, GATA6, GBE1, GCK, GCKR, GH1, GHR, GHRHR, GHRL, GLI3, GLIS3, GLUD1, GMPPA, GNAS, GNE, GPC3, GPD1, GPIHBP1, GYG1, GYS1, GYS2, H6PD, HADH, HEXA, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HSD11B1, IER3IP1, IFT172, IFT27, IGF1R, INPP5E, INS, INSR, ITCH, KCNJ11, KIF7, KLF11, KMT2C, LAMP2, LARGE1, LAS1L, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LMF1, LMNA, LPL, LZTFL1, MAGEL2, MAN1B1, MC3R, MC4R, MCHR1, MEGF8, MGAT2, MKKS, MKRN3, MKS1, MOGS, MPDU1, MPI, MPV17, MRAP2, MTNR1B, MTTP, MYO5A, MYO7A, MYT1L, NDN, NEUROD1, NEUROG3, NGLY1, NHLRC1, NKX2-2, NPHP1, NPHP3, NR0B2, NSD1, NTRK2, OFD1, OXCT1, PAX4, PAX6, PC, PCBD1, PCK1, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDX1, PFKM, PGAM2, PGK1, PGM1, PHF6, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PMM2, PNPLA6, POLD1, POMC, PPARG, PPARGC1B, PPP1R15B, PRKAG2, PRKAR1A, PRMT7, PROM1, PRPH2, PTEN, PTF1A, PYGL, PYGM, PYY, RAB23, RAI1, RBCK1, RDH5, RFT1, RFX6, RHO, RLBP1, RPGRIP1L, RPS6KA3, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SNRPN, SPG11, SRD5A3, SSR4, STAT1, STAT3, STT3A, STT3B, TBX3, THOC2, THRA, TMEM165, TMEM67, TRAF3IP1, TRAPPC9, TRIM32, TRMT10A, TTC21B, TTC8, TUSC3, UCP1, UCP2, UCP3, VPS13B, WDPCP, WFS1, XRCC4, XYLT1, ZBTB20, ZFP57, ZMPSTE24, ZNF711

DIABETES MELLITUS, NEONATAL: 39 genes – Delivery time: 3-4 weeks

ABCC8, AIRE, BLK, DOCK8, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, KLF11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PDX1, PLAGL1, PTF1A, RFX6, SLC19A2, SLC2A2, STAT1, STAT3, WFS1, ZFP57

DIABETES, MONOGENIC: 60 genes – Delivery time: 3-4 weeks

ABCC8, AIRE, AKT2, ALMS1, BLK, CEL, CISD2, CP, DCAF17, DNAJC3, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, KCNJ11, KLF11, LRBA, MAFA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PIK3R1, POLD1, PPARG, PPP1R15B, PTF1A, RFX6, SLC16A1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, TBC1D4, TRMT10A, UCP2, WFS1, ZBTB20, ZFP57, ZMPSTE24

FAMILIAL HYPERCALCEMIA: 9 genes – Delivery time: 3-4 weeks

ALPL, AP2S1, CASR, CDC73, CDKN1C, CYP24A1, GNA11, MEN1, PTH1R

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM): 35 genes – Delivery time: 3-4 weeks

ABCC8, ACAT1, AKT2, AKT3, ALG3, ALG6, CACNA1D, EIF2S3, FBP1, FOXA2, GCK, GLUD1, HADH, HK1, HMGCL, HMGCS2, HNF1A, HNF4A, INS, INSR, KCNJ11, KCNQ1, KDM6A, KMT2D, MPI, OXCT1, PCK1, PCK2, PDX1, PGM1, PMM2, SLC16A1, TRMT10A, UCP2, USH1C

GENITAL ABNORMALITIES: 105 genes – Delivery time: 3-4 weeks

AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARX, ATRX, B3GLCT, BCOR, BMP4, CCNQ, CDKN1C, CEP41, CHD4, CHD7, CREBBP, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR24, DHCR7, DHH, DMRT1, DNMT3B, DYNC2H1, ERCC3, ESCO2, FAT4, FEZF1, FGF8, FGFR1, FGFR2, FIG4, FRAS1, FREM2, FSHB, GATA4, GNRHR, GRIP1, HCCS, HOXA13, HSD17B3, HSD17B4, HSD3B2, ICK, IL17RD, IRF6, KISS1R, LHB, LHCGR, LMNA, MAMLD1, MAP3K1, MAPRE2, MKKS, MKRN3, MKS1, NEK1, NR0B1, NR2F2, NR5A1, NSMF, OGT, OPHN1, POR, PROK2, PROKR2, PTPN11, RERE, RIPK4, ROR2, RPL10, RSPO1, SALL1, SAMD9, SCARF2, SEMA3A, SETBP1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, TCTN3, TSPYL1, TWIST2, UBR1, WDR11, WDR60, WNT4, WNT5A, WNT7A, WT1, WWOX, ZFPM2

HYPERPARATHYROIDISM: 28 genes – Delivery time: 3-4 weeks

AIP, AIRE, AP2S1, APC, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, CHEK2, DICER1, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, MEN1, NTRK1, PRKAR1A, PTEN, PTH, PTH1R, RET, SOX3, STX16, TBCE

HYPOGLYCAEMIA: 155 genes – Delivery time: 3-4 weeks

AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACSF3, ADK, AGL, AKT2, AKT3, ALDH7A1, ALDOA, ALDOB, ALG12, ALG3, ALG6, AUH, BCKDHA, BCKDHB, BLK, CA5A, CACNA1C, CACNA1D, CDKN1C, COG7, CPT1A, CPT2, CYP7B1, DBH, DBT, DDC, DGUOK, DLD, DMXL2, DOLK, ENO3, ETFA, ETFB, ETFDH, FAH, FBP1, G6PC, GAA, GALE, GALK1, GALT, GBE1, GCDH, GCK, GH1, GHR, GK, GLUD1, GPC3, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HESX1, HK1, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HRAS, HSD17B10, HSD3B7, INS, INSR, IVD, KCNJ11, KDM6A, KLF11, KMT2D, LAMP2, LDHA, LHX3, LHX4, LRPPRC, MAFA, MCCC1, MCCC2, MLYCD, MPC1, MPI, MPV17, MRAP, MTO1, MTOR, NADK2, NEUROD1, NNT, NR0B1, NR1H4, NR3C1, NSD1, OGDH, OPLAH, OTX2, OXCT1, PAX4, PC, PCCA, PCCB, PCK1, PCK2, PCSK1, PDX1, PFKM, PGAM2, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPO, POMC, PPP1R15B, PRKAG2, PROP1, PTF1A, PYGL, PYGM, RBCK1, RNF125, SERAC1, SLC16A1, SLC22A5, SLC25A13, SLC25A20, SLC2A2, SLC37A4, SLC52A1, SLC52A2, SLC52A3, SOX2, SOX3, TALDO1, TAZ, TBX19, TFAM, TRMT10A, UCP2, UQCRB, UQCRC2

HYPOGONADOTROPIC HYPOGONADISM (KALLMAN SYNDROME): 58 genes – Delivery time: 3-4 weeks

AIRE, ANOS1, AXL, CHD4, CHD7, CYP19A1, DCAF17, DHCR7, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, GPC4, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, KLB, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, NR0B1, NR5A1, NSMF, OTX2, PCSK1, PLXNA1, POLR3B, POU1F1, PROK2, PROKR2, PROP1, RELN, RNF216, SEMA3A, SEMA3E, SLC29A3, SOX10, SOX2, SOX3, SPRY4, SRY, TAC3, TACR3, WDR11, XRCC4

HYPOPARATHYROIDISM: 25 genes – Delivery time: 3-4 weeks

AIRE, AP2S1, ATP7B, CASR, CHD7, CYP24A1, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, IRX5, NEBL, PDE4D, PRKAR1A, PTH, PTH1R, SLC34A1, SOX3, STX16, TBCE, TBX1, TBX2

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): 23 genes – Delivery time: 3-4 weeks

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, EHHADH, ENPP1, FAH, FAM20C, FGF23, FGFR1, GATM, GNAS, KL, NDUFAF6, NHERF1, OCRL, PHEX, SLC2A2, SLC34A1, SLC34A3, VDR

MATURITY-ONSET DIABETES OF THE YOUNG (MODY): 18 genes – Delivery time: 3-4 weeks

ABCC8, BLK, CEL, GATA6, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1

MONOGENIC OBESITY: 90 genes – Delivery time: 3-4 weeks

ADCY3, ADRB2, ADRB3, AFF4, AGRP, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8orf37, CARTPT, CEP164, CEP19, CEP290, CPE, CREBBP, CRTC1, CUL4B, DYRK1B, ENPP1, EP300, ESR1, FBN3, GHRL, GNAS, GPR101, GRIK1, GRPR, HTR2C, IFT172, IFT27, INPP5E, KDM6A, KIF7, KMT2D, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MCHR1, MEGF8, MKKS, MKS1, MRAP, MRAP2, NCOA1, NLGN2, NPY, NPY1R, NR0B2, NTRK2, PCSK1, PCSK2, PCSK9, PHF6, PHIP, POMC, PPARG, PPARGC1B, PRMT7, RAB23, RAI1, RPS6KA3, SCLT1, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, TBX3, THRA, TMEM67, TRAPPC9, TRIM32, TTC8, TUB, UCP1, UCP3, VPS13B, WDPCP

SEXUAL DEVELOPMENT DISORDERS: 303 genes – Delivery time: 3-4 weeks

AGPAT2, AIRE, AKR1C2, AKR1C4, ALMS1, ALX4, AMH, AMHR2, ANOS1, AR, ARID1B, ARL6, ARX, ATF3, ATR, ATRX, B3GLCT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BMP15, BMP4, BMP7, BMPR1B, BNC2, BRAF, BRCC3, BRWD3, BSCL2, BUB1B, C8orf37, CBX2, CCNQ, CD96, CDKN1C, CEP290, CEP41, CFTR, CHD4, CHD7, CHRM3, CKAP2L, CLPP, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DCAF17, DDX3Y, DHCR24, DHCR7, DHH, DHX37, DIAPH2, DMRT1, DNMT3B, DOCK8, DUSP6, DVL1, DYNC2H1, EBP, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, ERCC3, ERCC6, ERCC8, ESCO2, ESR1, ESR2, EVC, EVC2, FAT4, FBXL4, FEZF1, FGD1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FLNA, FLRT3, FMR1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA1, GATA4, GHR, GK, GLI3, GNAS, GNRH1, GNRHR, GPC3, GPC6, GRIP1, H6PD, HARS2, HBA1, HCCS, HDAC8, HESX1, HFE, HNF1B, HOXA13, HOXA4, HOXB6, HOXD13, HPRT1, HS6ST1, HSD11B1, HSD17B3, HSD17B4, HSD3B2, ICK, IGSF1, IL17RD, INPP5E, INSL3, INSR, IRF6, IRX5, KAT6B, KDM5C, KDM5D, KIF7, KISS1, KISS1R, KL, KRAS, LARS2, LEP, LEPR, LHB, LHCGR, LHX1, LHX3, LHX4, LIG4, LMNA, LZTFL1, MAMLD1, MAP2K1, MAP3K1, MAPRE2, MBTPS2, MCM9, MECP2, MED12, MID1, MKKS, MKRN3, MKS1, MSH5, MTM1, NAA10, NBN, NEK1, NOBOX, NOTCH2, NR0B1, NR2F2, NR3C1, NR5A1, NRAS, NSDHL, NSMF, OCRL, OFD1, OGT, OPHN1, ORC1, OTX2, PAPSS2, PAX2, PCNT, PCSK1, PDE4D, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PHF6, PITX2, PMM2, POF1B, POLG, POLR3A, POLR3B, POR, POU1F1, PRKAR1A, PROK2, PROKR2, PROP1, PSMC3IP, PTDSS1, PTPN11, RAB23, RAB3GAP2, RAB40AL, RAF1, RBBP8, RECQL4, RERE, RET, RIPK4, RNF216, ROR2, RPL10, RSPO1, RXFP2, SALL1, SAMD9, SCARF2, SDCCAG8, SEMA3A, SEMA3E, SETBP1, SF3B4, SHBG, SLC29A3, SLC39A4, SMARCA2, SMS, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SPRY4, SRD5A2, SRY, STAG3, STAR, STK11, STRA6, TAC3, TACR3, TALDO1, TBCE, TBX15, TBX3, TCTN3, TMEM67, TMEM70, TNK2, TP63, TRIM32, TSHR, TSPYL1, TTC8, TWIST2, TWNK, UBR1, UPK3A, USP26, USP9Y, VAMP7, WDPCP, WDR11, WDR35, WDR60, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WT1, WWOX, ZBTB16, ZEB2, ZFPM2

SHORT STATURE: 198 genes – Delivery time: 3-4 weeks

ACAN, ACTB, ACTG1, ADAMTS10, AGPS, ALMS1, ALPL, ANKRD11, ARID1A, ARID1B, ARSB, ARSE, ATR, ATRIP, ATRX, B3GAT3, BCS1L, BLM, BMP2, BRAF, BRD4, BRF1, BTK, CBL, CCDC8, CDC6, CDT1, CENPJ, CEP152, CEP63, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREBBP, CRIPT, CRTAP, CTSK, CUL7, DHCR7, DNA2, DVL1, EBP, EP300, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, FANCA, FANCC, FANCG, FBN1, FGD1, FGF23, FGFR3, FLNB, FN1, GALNS, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GLI3, GNAS, GNPAT, GPC3, GUSB, HDAC8, HESX1, HRAS, HSPG2, IDS, IDUA, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, IRS1, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG4, LMNA, LTBP2, LTBP3, LZTR1, MAP2K1, MAP2K2, MASP1, MATN3, MCM5, NBN, NF1, NIN, NIPBL, NME1, NOTCH2, NPPC, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, P3H1, PACS1, PCNT, PDE4D, PEX7, PHEX, PIEZO2, PIK3R1, PITX2, PLK4, POC1A, POP1, POU1F1, PPP3CA, PRKAR1A, PRMT7, PROKR2, PROP1, PSPH, PTH1R, PTPN11, PUF60, RAD21, RAF1, RAI1, RASA2, RBBP8, RIT1, ROR2, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SATB2, SHOC2, SHOX, SLC26A2, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAG1, STAG2, STAT5B, TALDO1, TBCE, TBX19, TBX2, TBX3, THRB, TOP3A, TRAPPC2, TRIM37, TRMT10A, TRPS1, UBE3B, WNT5A, WRN, XRCC4

THYROID HYPOPLASIA / ATHYREOSIS / THYROID DYSGENESIS: 33 genes – Delivery time: 3-4 weeks

AP2S1, CASR, DUOX1, DUOX2, DUOXA2, DYRK1A, ELN, FOXE1, GAS1, GLIS3, GNA11, GNAS, IYD, JAG1, KAT6B, KDM6A, KMT2D, NKX2-1, NKX2-5, PAX8, SALL1, SECISBP2, SLC11A2, SLC26A4, SLC5A5, STX16, TBX1, TG, THRA, THRB, TPO, TSHR, TUBB1

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