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Endocrine diseases

AMBIGUOUS GENITALS: 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

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

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

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

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

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

DISORDERS OF SEXUAL DEVELOPMENT: 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

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

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

FAMILIAR HYPOPHOSPHATEMIC RACKITIS/HYPOPHOSPHATASIA: 22 genes – Delivery time: 3-4 weeks

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

FAMILY 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

GLUCOCORTICOID DEFICIENCY: 8 genes – Delivery time: 3-4 weeks

AAAS, AIRE, MC2R, MRAP, NNT, NR3C1, POMC, STAR

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

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

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

HYPOGLYCEMIAS: 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

HYPOGONADOTROP 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

HYPOTHYROIDISM AND RESISTANCE TO THYROID HORMONES: 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

LOW SIZE: 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

MODY DIABETES: 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

MONOGENEIC DIABETES: 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

MONOGENEIC 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

NEONATAL DIABETES: 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

THYROID HYPOPLASIA/ ATHIREOSIS/ THYROID DYSGENESIA: 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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