Indications for screening
A comprehensive genetic test for Usher syndrome. The Usher Syndrome Panel is one test that is:

• Comprehensive—tests for 9 genes known to cause Usher syndrome type 1, type 2, and type 3 (ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN  for detection of single nucleotide variation and copy number variation).
• Easy—patient provides one blood sample.
• Convenient—blood sample is taken in local doctor's office.
• Fast—one test shortens waiting time for results.
• Accurate—99 percent diagnostic specificity & sensitivity.
• Pinpointed diagnosis—offers the best method of genetic diagnosis; prognosis for additional hearing and/or vision issues; and potential genetic counseling.
• Less expensive—one test versus many tests.

Methodology
Next Generation Sequencing and Read Depth Analysis (for deletion/duplication analysis).

Turnaround Time
Turnaround time is approximately 3 months.

Sample Required
8 - 10 cc. whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).

Cost & CPT Codes

• MORL Testing Menu
• MORL Hearing Testing Requisition Form

Other Web Sites:

• Usher Syndrome Type I
• Usher Syndrome Type II

The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.