Endocrine & Reproductive
Product NameApplicationRegion
ME031-GNAS Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP) GNAS 20q13.32
ME033-TNDM Transient neonatal diabetes mellitus 6q24
P017-MEN1 Multiple endocrine neoplasia MEN1 11q13
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P050-CAH Congenital Adrenal Hyperplasia CYP21A2 6p21.3
P074-AR Androgen insensitivity syndrome (AIS) 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 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3
P177-CASR Hypocalciuric Hypercalcemia, familial CASR 3q13
P185-Intersex Sex determination SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 & NROB1 Xp21.2
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 (PGL) SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3, SDHAF1 19q13, SDHAF2 11q12
P234-GATA3 - GATA4 Cardiac septal defects GATA4 8p23, GATA3 10p15
P241-MODY Mix 1CE Maturity-Onset Diabetes of the Young (MODY) MODY 1, 2, 3; 5
P244-AIP-MEN1-CDKN1B Multiple endocrine neoplasia (MEN) AIP 11q13, MEN1 11q13, CDKN1B 12p13
P251-NB mix 1 Neuroblastoma Chromosomes 1, 3 and 11
P252-NB mix 2 Neuroblastoma Chromosomes 2 (MYCN) and 17
P253-NB mix 3 Neuroblastoma Chromosomes 4, 7, 9, 12, 14
P262-GHI Growth Hormone Insensitivity (GHI) GHR 5p12-13, 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, CYP17A1, SRD5A2, HSD17B3
P357-MODY Mix 2 Maturity-Onset Diabetes of the Young (MODY) MODY 4; 6-10
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); non-syndromic hearing loss 15q15.3; 16p12.2
P463-MRKH Mayer-Rokitansky-Küster-Hauser Syndrome 16p11.2; 17q12; 22q11.21
P466-CDC73 HPT jaw tumour syndrome, familial hyperparathyroidism, parathyroid carcinoma CDC73
P476-ZNRF3new Adrenocortical tumours and other solid tumours ZNRF3, 22q12.1
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