Product Name

Application

Region

P153-EYA1

Branchio-oto-renal dysplasia syndrome (BOR)

EYA1 8q13.3.

P163-GJB-WFS1

Hearing loss

GJB3 1p34.3 (connexin 31), WFS1 4p16.1 (Wolframin)

P186-PAX3-MITF-SOX10

Waardenburg syndrome (WS) type II, WS1, WS3

PAX3 2q35, MITF 3p14, SOX10 22q13.1

P191-Alport-mix1

Alport syndrome, Hereditary Nephritis

COL4A5 Xq22

P192-Alport-mix2

Alport syndrome, Hereditary Nephritis

COL4A5 Xq22

P234-GATA3 - GATA4

Cardiac septal defects

GATA4 8p23, GATA3 10p15

P280-SLC26A4

Pendred syndrome

SLC26A4 7q31

P292-PCDH15

Usher syndrome

PCDH15 10q21.1

P310-TCOF1

Treacher Collins-Franceschetti 1

TCOF1

P361-USH2A mix 1

Usher syndrome

USH2A 1q41

P362-USH2A mix 2

Usher syndrome

USH2A 1q41

P381-COL11A1 mix 1

Marshall, type II Stickler syndromes

COL11A1

P382-COL11A1 mix 2

Marshall, type II Stickler syndromes

COL11A1

P439-COL4A3improved

Alport Syndrome

02q36.3

P444-COL4A4

Alport Syndrome

2q36.3

P461-DIS

Deafness Infertility Syndrome (DIS); non-syndromic hearing loss

15q15.3; 16p12.2