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.

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

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