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Complete Probemix List
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Hearing Impairment
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 7q22.3
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-COL4A3
Alport Syndrome
02q36.3
P444-COL4A4
Alport Syndrome
2q36.3
P461-DIS
Deafness Infertility Syndrome (DIS); non-syndromic hearing loss
15q15.3; 16p12.2
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