Product Name

Application

Region

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

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-SDH

Paragangliomas (PGL)

SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3

P234-GATA3 - GATA4

Cardiac septal defects

GATA4 8p23, GATA3 10p15

P241-MODY

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

1p36, 3p22/3p21.3 and 11q23

P252-NB mix 2

Neuroblastoma

2p24.1/MYCN, 2q33, 17p13/TP53, 17q

P253-NB mix 3

Neuroblastoma

Chromosomes 4, 7, 9, 12, 14

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-Chromosome

(basic 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, famial hyperparathyroidism, parathyroid carcinoma

CDC73