Product Name

Application

Region

ME028-PWS/AS

Prader Willi syndrome (PWS), Angelman syndrome (AS)

PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2

ME030-BWS/RSS

Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)

11p15 region, H19, IGF2, CDKN1C, KCNQ1

ME031-GNAS

Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP)

GNAS 20q13.32

ME032-UPD7-UPD14

Uniparental disomy

6q24, 7p12, 7q32 and 14q32

ME033-TNDM

Transient neonatal diabetes mellitus

6q24

P047-RB1

Retinoblastoma (RB)

RB1 13q14