Endocrinology
About this category
Hormones are chemical compounds whose purpose is to regulate the proper functioning of the whole organism. In many cases, too intense or impaired secretion of hormones into the bloodstream may be genetic, such as familial hyperparathyroidism, characterized by excessive secretion of parathyroid hormone. Other disorders related to the abnormal secretion of hormones include, among others, diabetes mellitus, hyperaldosteronism, glucocorticoid deficiency, congenital adrenal hyperplasia, combined pituitary hormone deficiency.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
22 panels-
Combined pituitary hormone deficiency
9 genesGLI2; HESX1; LHX3; LHX4; OTX2; POU1F1; PROKR2; PROP1; SOX2
615 EURDetails -
Congenital adrenal hyperplasia
12 genesARMC5; CYP11A1; CYP11B1; CYP11B2; CYP17A1; CYP21A2; HSD3B2; PDE11A; PDE8B; POR; PRKAR1A; STAR
615 EURDetails -
Diabetes
68 genesABCC8; ACE; AKT2; APPL1; AQP2; AVPR2; BLK; CAPN10; CCR5; CDKAL1; CEL; CISD2; CTLA4; DCAF17; EIF2AK3; ENPP1; FOXC2; FOXP3; G6PC2; GATA6; GCK; GLIS3; GLUD1; GPD2; HADH; HMGA1; HNF1A; HNF1B; HNF4A; IGF2BP2; IL1RN; IL2RA; IL6; INS; INSR; IRS1; ITPR3; KCNJ11; KCNQ1; KLF11; LIPC; LMNA; MAPK8IP1; MTNR1B; NEUROD1; NEUROG3; NKX2-2; OAS1; PAX4; PDX1; PON1; PPARG; PPP1R3A; PTPN1; PTPN22; RETN; RFX6; SLC16A1; SLC19A2; SLC2A2; SLC30A8; SOD2; SUMO4; TCF7L2; UCP2; VEGFA; WFS1; ZFP57
615 EURDetails -
Familial hyperaldosteronism
5 genesCACNA1H; CLCN2; CYP11B1; CYP11B2; KCNJ5
530 EURDetails -
Glucocorticosteroid deficiency
9 genesAAAS; MC2R; MCM4; MRAP; NNT; NR3C1; POMC; STAR; TXNRD2
615 EURDetails -
Hyperinsulinemia
11 genesABCC8; FBP1; GCK; GLUD1; HADH; HNF1A; HNF4A; INSR; KCNJ11; SLC16A1; UCP2
615 EURDetails -
Hyperparathyroidism
15 genesAIRE; AP2S1; CASR; CDC73; CDKN1A; CDKN1B; CDKN2B; CDKN2C; CYP24A1; GCM2; GNA11; MEN1; PTH; RET; TRPV6
615 EURDetails -
Hypomagnesemia
25 genesATP1A1; BSND; CASR; CLCNKB; CLDN16; CLDN19; CNNM1; CNNM2; CNNM4; EGF; FAM111A; FXYD2; HNF1B; KCNA1; KCNJ10; MAGT1; MMGT1; NIPA2; PCBD1; SARS2; SLC12A3; SLC41A2; SLC41A3; TRPM6; TRPM7
615 EURDetails -
Hypothyroidism and thyroid hormone resistance
29 genesDUOX1; DUOX2; DUOXA2; GLIS3; GNAS; HESX1; IGSF1; IRS4; IYD; LHX3; NKX2-1; NKX2-5; PAX8; POU1F1; PROP1; SECISBP2; SLC16A2; SLC26A4; SLC5A5; TBL1X; TG; THRA; THRB; TPO; TRH; TRHR; TSHB; TSHR; UBR1
615 EURDetails -
Kallmann syndrome - small panel
5 genesFGF8; FGFR1; KAL1; PROK2; PROKR2
530 EURDetails -
Kallmann syndrome, hypogonadism
31 genesAXL; CCDC141; CDK9; CHD7; DCAF17; DUSP6; FEZF1; FGF17; FGF8; FGFR1; FLRT3; FSHB; GNRH1; GNRHR; HS6ST1; IL17RD; KAL1; KISS1; KISS1R; LHB; NDNF; NSMF; PROK2; PROKR2; SEMA3A; SEMA7A; SOX10; SPRY4; TAC3; TACR3; WDR11
615 EURDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
530 EURDetails -
MODY
17 genesABCC8; APPL1; BLK; CEL; GCK; HNF1A; HNF1B; HNF4A; INS; KCNJ11; KLF11; NEUROD1; NKX2-2; PAX4; PDX1; RFX6; ZFP57
615 EURDetails -
Monogenic diabetes - selected genes
7 genesBLK; GCK; HNF1A; HNF1B; HNF4A; KLF11; NEUROD1
560 EURDetails -
Monogenic obesity
65 genesADCY3; ADRB2; ADRB3; AFF4; AGRP; ALMS1; ARL6; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BDNF; CARTPT; CCDC28B; CELA2A; CEP19; CEP290; CPE; CUL4B; DYRK1B; ENPP1; FTO; GHR; GHRL; GNAS; GNB3; HDAC4; HDAC8; INPP5E; KIDINS220; KSR2; LAS1L; LEP; LEPR; LZTFL1; MAGEL2; MC3R; MC4R; MKKS; MKS1; MRAP2; NR0B2; NTRK2; PCSK1; PHF6; PHIP; POMC; PPARG; PYY; SDC3; SDCCAG8; SH2B1; SIM1; SLC6A14; TRIM32; TTC8; TUB; UCP2; UCP3; VPS13B; WDPCP
615 EURDetails -
Multinodular goiter
26 genesCD40; CTLA4; DICER1; DUOX2; DUOXA2; FOXI1; FOXP3; GNAS; IL2RA; IYD; KCNJ10; KEAP1; NKX2-5; PAX8; PTPN22; RET; SCGB3A2; SLC26A4; SLC5A5; TG; THRA; THRB; TPO; TRHR; TSHB; TSHR
615 EURDetails -
Neuroendocrine tumours
26 genesAIP; APC; CDC73; CDKN1B; CDKN2B; CYP21A2; DICER1; FH; MAX; MEN1; MET; NDUFA13; NF1; PRKAR1A; PTEN; RET; SDHA; SDHAF2; SDHB; SDHC; SDHD; SRGAP1; TMEM127; TP53; VHL; WRN
615 EURDetails -
Parathyroid glands, calcium metabolism disorders
28 genesADCY10; AIRE; ANKH; AP2S1; BSND; CASR; CDC73; CDKN1A; CDKN1B; CDKN2B; CDKN2C; CLCN5; CLCNKA; CLCNKB; CLDN16; CYP24A1; GCM2; GNA11; KCNJ1; MEN1; PTH; RET; SLC12A1; SLC26A1; SLC34A1; SLC34A3; TRPV6; VDR
615 EURDetails -
Primary amenorrhea
31 genesAMH; AMHR2; BMP15; CYP17A1; CYP19A1; ESR1; FGFR1; FIGLA; FOXL2; FSHR; GDF9; HFM1; KISS1; KISS1R; LHB; LHCGR; MCM8; MCM9; NOBOX; NR5A1; PROK2; PROKR2; PSMC3IP; SEMA3A; SOHLH1; SOHLH2; STAG3; SYCE1; TAC3; TACR3; WDR11
615 EURDetails -
Primary Ovarian Insufficiency (POI)
18 genesAMH; AMHR2; BMP15; FIGLA; FOXL2; FSHR; GDF9; HFM1; LHCGR; MCM8; MCM9; NOBOX; NR5A1; PSMC3IP; SOHLH1; SOHLH2; STAG3; SYCE1
615 EURDetails -
Pseudohypoaldosteronism
10 genesCUL3; HSD11B2; KCNJ5; KLHL3; NR3C2; SCNN1A; SCNN1B; SCNN1G; WNK1; WNK4
615 EURDetails -
Sex development disorders
75 genesAMH; AMHR2; AR; ARX; ATRX; AXL; BCOR; CBX2; CCDC141; CDK9; CDKN1C; CEP41; CHD7; CREBBP; CYB5A; CYP11A1; CYP11B1; CYP17A1; CYP19A1; CYP21A2; DHCR7; DHH; DMRT1; DUSP6; DYNC2H1; ERCC3; FEZF1; FGF17; FGF8; FGFR1; FIG4; FLRT3; FRAS1; GATA4; GNRH1; GNRHR; HS6ST1; HSD17B3; HSD3B2; IL17RD; IRF6; KAL1; KISS1; KISS1R; LHB; LHCGR; MAMLD1; MAP3K1; MKRN3; MKS1; NR0B1; NR2F2; NR5A1; NSMF; POR; PROK2; PROKR2; RSPO1; SAMD9; SEMA3A; SEMA7A; SGPL1; SOX10; SOX3; SOX9; SPRY4; SRD5A2; SRY; STAR; TAC3; TACR3; TSPYL1; WDR11; WT1; ZFPM2
615 EURDetails
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