Endocrine & Reproductive
Product NameApplicationRegion
ME031-GNAS Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP) GNAS 20q13.32
ME033-TNDM Transient neonatal diabetes mellitus Chr. 6q24; 11p15
P017-MEN1CE Multiple endocrine neoplasia type 1 (MEN1) MEN1 11q13.1
P049-SLC6A8 - ABCD1 X-linked creatine deficiency syndrome; X-linked adrenoleukodystrophy (X-ALD); X-linked hydrocephalus Xq28 region; SLC6A8 Xq28; ABCD1 Xq28
P050-CAH Congenital adrenal hyperplasia (CAH) CYP21A2 6p21.3
P074-AR Androgen insensitivity syndrome (AIS); Spinal and bulbar muscular atrophy (SBMA) AR Xq12
P117-ABCC8 Hyperinsulinemic hypoglycemia, familial (HHF1) ABCC8 11p15.1
P132-Kallmann-1 Kallmann syndrome, x-linked KAL1, ANOS1, Xp22
P133-Kallmann-2 Kallmann syndrome FGFR1 8p12, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3
P177-CASR Hypocalciuric hypercalcemia type 1, familial (HHC1) CASR 3q13-q21
P185-Intersex Sex determination SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 Xp21.2; NROB1 Xp21.2; SRY Yp11.31; UTY Yq11.221
P216-GHD mix1 Growth Hormone Deficiency (GHD) GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
P217-IGF1R Insulin-like growth factor 1 receptor (IGF1R) IGFR1, IGFBP3
P220-Obesity Obesity LEPR, POMC, LEP, SIM1, MC3R, MC4R
P224-PPARG Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer PPARG 3p25.2
P226-SDHCE Paragangliomas-Pheochromocytoma syndrome, hereditary (PGL/PCC) SDHD 11q23.1; SDHB 1p36.1; SDHC 1q23.3; SDHAF1 19q13.12; SDHAF2 11q12.2
P234-GATA3 - GATA4 Ventricular septal defect-1 (VSD1); Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome GATA4 8p23.1; GATA3 10p14
P241-MODY Mix 1CE;MA Maturity-onset diabetes of the young (MODY) type 1, 2, 3, 5; Renal cysts and diabetes syndrome (RCAD) HNF1A 12q24.31; HNF1B 17q12; HNF4A 20q13.12; GCK 7p13
P244-AIP-MEN1-CDKN1B Multiple endocrine neoplasia (MEN) type1, 4; Pituitary adenoma predisposition syndrome AIP 11q13.2; MEN1 11q13.1; CDKN1B 12p13.1
P251-NB mix 1 Neuroblastoma Chr. 1; 3; 11
P252-NB mix 2 Neuroblastoma Chr. 2 (MYCN); 17
P253-NB mix 3 Neuroblastoma Chr. 4; 7; 9; 12; 14
P262-GHI Growth hormone insensitivity (GHI) GHR 5p12-13.1; JAK2 9q24.1; IGF1 12q23.2; STAT5B 17q21.2
P312-POR Congenital adrenal hyperplasia (CAH) P450 oxireductase gene (POR)
P319-Thyroid Thyroid dysgenesis TPO, PAX8, FOXE1, NKX2-1, TSHR
P334-Gonadal Gonadal development disorder DMRT1 9p24.3; CYP17A1 10q24.32; SRD5A2 2p23.1; HSD17B3 9q22.32
P357-MODY Mix 2 Maturity-onset diabetes of the young (MODY) type 4-10 PDX1 13q12.2; HNF1B 17q12; NEUROD1 2q31,3; KLF11 2p25.1; CEL 9q34.2; PAX4 7q32,1; INS 11p15.5
P360-Y-Chromosomebasic research Y-Chromosome Microdeletions Chromosome Y
P429-SDHA-MAX Paraganglioma and pheochromocytoma 5p15.3 and 14q23.3
P461-DIS Deafness Infertility Syndrome (DIS); Deafness 16, autosomal recessive (DFNB16); Deafness 22, autosomal recessive (DFNB22) STRC 15q15.3; CATSPER2 15q15.3; OTOA 16p12.2
P463-MRKH Mayer-Rokitansky-Küster-Hauser syndrome TBX6 16p11.2; LHX1 17q12; TBX1 22q11.21
P466-CDC73 HPT jaw tumour syndrome, familial hyperparathyroidism, parathyroid carcinoma CDC73
P476-ZNRF3 Adrenocortical tumours and other solid tumours ZNRF3, 22q12.1
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