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Usher and Alström syndrome: gene panel

Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Ophthalmology, Endocrinology, Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

14

Test / Mutation List

ADGRV1, ALMS1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, TIMM8A, USH2A, USH1C, USH1G, WHRN

TAT

3 to 4 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.