Otorhinolaryngology

CGC Mutation Panels

Congenital Deafness (Mitochondrial frequent mutations)
Congenital Deafness (MLPA deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
Congenital Deafness (MLPA deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes) AND (Nonsyndromic) DFNB1 and DFNA3 (GJB2/Connexin 26 sequencing)
Congenital Deafness (Nonsyndromic X-linked) DFN3 (POU3F4 gene)
Congenital Deafness (Nonsyndromic) DFNB1 (GJB6 sequencing)
Congenital Deafness (Nonsyndromic) DFNB1 (GJB6, 2 deletion)
Congenital Deafness (Nonsyndromic) DFNB1 and DFNA3 (GJB2/Connexin 26 sequencing)
Congenital Deafness (Nonsyndromic) DFNB4 (SLC26A4 gene sequencing)
Congenital Deafness (Nonsyndromic) DFNB9 (OTOF gene sequencing)
Congenital Deafness (Nonsyndromic) See CGC Mutation Panel
Congenital Deafness (Syndromic) See CGC Mutation Panel
Congenital Deafness (Syndromic and Nonsyndromic) See CGC Mutation Panel
Usher Syndrome (mutations on MYO7A, CDH23, PCDH15, USH1C and USH1G genes)
Waardenburg Syndrome (PAX3 gene)