Usher syndrome: gene panel
Speciality(ies) / Other Speciality(ies)
Otorhinolaryngology
Ophthalmology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
13
Test / Mutation List
ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, TIMM8A, USH2A, USH1C, USH1G, WHRN
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.