Complete List of Usher Syndrome Panel Genes

ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN 

View the hearing loss phenotypes, OMIM gene ID, and inheritance associated with each gene here. 

MORL Screening Methodology

Next generation sequencing and read depth analysis

(SEND ONLY ONE OF THE FOLLOWING SAMPLE TYPES) : 

  • 5µg DNA suspended in ≥ 50µl elution buffer
    • minimum concentration 50ng/µl
    • A260/A280 1.8-2.0
  • 3-5 cc EDTA Whole Blood
    • room temperature
  • Saliva
    • DNA Genotek, ORAGene Discover, OGR-500
  • Buccal Swabs 
    • at least 4 swabs
    • DNA Genotek, OraCollect, OCD-100

Click here to print sample and shipping requirements.

  • Whole Blood Sample Stability for DNA extraction
    • EDTA Whole Blood is stable for 7 days at room temperature and 4 months in the refrigerator
  • Saliva Collection Kits and Buccal Swabs Sample Stability
    • Per the manufacturer for samples collected following the instructions provided with kit/swabs: OGR-500 saliva collection kits are stable at room temperature for several years and OCD-100 buccal swabs stable up to 80 days.  Both of these kits can be shipped at room temperature.

  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Room temperature (DO NOT FREEZE)
  • Samples may be refrigerated if delivery is delayed
  • Shipping and receiving dock closed on weekends and holidays 
    • Deliveries accepted Monday - Friday 

Provide a pedigree, audiograms, clinic notes regarding hearing loss and temporal bone imaging studies (if performed).

 

Click here to print sample and shipping requirements.

Information

Quick Facts

  • CPT codes: 81404(x2), 81407(x3), 81408(x2), 81479(x2)
  • Test codes: USH02
  • Turnaround time: 6 weeks
  • Cost: $1950
Req form

To order:

Use this requisition form to order this test.

background information

Usher syndrome is a group of autosomal recessive conditions characterized by hearing loss and a progressive vision condition called retinitis pigmentosa (RP). Some types of Usher syndrome also cause vestibular areflexia which can appear as delays in learning to sit and walk. Usher syndrome is the most common cause of genetic deaf-blindness.  

 

There are three types of Usher syndrome, classified by the severity and onset of hearing loss and RP: 

  1. Usher syndrome type 1: congenital severe-to-profound hearing loss, vestibular areflexia (balance issues) and vision loss due to retinitis pigmentosa starting in first decade of life. 

  2. Usher syndrome type 2: congenital moderate-to-severe hearing loss with normal balance and vision loss due to retinitis pigmentosa starting in teens to 20s. 

  1. Usher syndrome type 3: typically individuals are born hearing with near normal balance and develop vision problems due to retinitis pigmentosa and hearing loss in adolescence or early adulthood.  

 

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