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
2194 PLNDetails -
Congenital adrenal hyperplasia
12 genesARMC5; CYP11A1; CYP11B1; CYP11B2; CYP17A1; CYP21A2; HSD3B2; PDE11A; PDE8B; POR; PRKAR1A; STAR
2194 PLNDetails -
Cukrzyca monogenowa - analiza wybranych genów
7 genesBLK; GCK; HNF1A; HNF1B; HNF4A; KLF11; NEUROD1
1994 PLNDetails -
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
2194 PLNDetails -
Familial hyperaldosteronism
5 genesCACNA1H; CLCN2; CYP11B1; CYP11B2; KCNJ5
1894 PLNDetails -
Glucocorticosteroid deficiency
9 genesAAAS; MC2R; MCM4; MRAP; NNT; NR3C1; POMC; STAR; TXNRD2
2194 PLNDetails -
Hyperinsulinemia
11 genesABCC8; FBP1; GCK; GLUD1; HADH; HNF1A; HNF4A; INSR; KCNJ11; SLC16A1; UCP2
2194 PLNDetails -
Hyperparathyroidism
15 genesAIRE; AP2S1; CASR; CDC73; CDKN1A; CDKN1B; CDKN2B; CDKN2C; CYP24A1; GCM2; GNA11; MEN1; PTH; RET; TRPV6
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Kallmann syndrome - small panel
5 genesFGF8; FGFR1; KAL1; PROK2; PROKR2
1894 PLNDetails -
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
2194 PLNDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
1894 PLNDetails -
MODY
17 genesABCC8; APPL1; BLK; CEL; GCK; HNF1A; HNF1B; HNF4A; INS; KCNJ11; KLF11; NEUROD1; NKX2-2; PAX4; PDX1; RFX6; ZFP57
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Primary Ovarian Insufficiency (POI)
18 genesAMH; AMHR2; BMP15; FIGLA; FOXL2; FSHR; GDF9; HFM1; LHCGR; MCM8; MCM9; NOBOX; NR5A1; PSMC3IP; SOHLH1; SOHLH2; STAG3; SYCE1
2194 PLNDetails -
Pseudohypoaldosteronism
10 genesCUL3; HSD11B2; KCNJ5; KLHL3; NR3C2; SCNN1A; SCNN1B; SCNN1G; WNK1; WNK4
2194 PLNDetails -
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
2194 PLNDetails
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