Usher Syndrome: Deletion/Duplication Panel

Condition Description

Usher syndrome is a disorder consisting of retinitis pigmentosa (RP) and congenital hearing loss, ranging from partial or profound. Several clinical subtypes exist. Usher syndrome type I is generally characterized by profound congenital hearing loss with no vestibular function and early onset RP. Usher syndrome type II is generally characterized by mild to severe pre-lingual hearing loss with intact vestibular function and adolescent or adult onset RP. Usher syndrome type III is characterized by progressive post-lingual hearing loss, variable vestibular impairment, and late onset RP.

References:  
  • Daiger et al. (1998) Invest Ophthalmol Vis Sci 39:S295.
  • OMIM
  • GeneReviews
  • Emory and Rimoin's Principles and Practice of Medical Genetics, 5th Edition

Genes (12)

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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of Usher syndrome.
  • Carrier testing in adults with a family history of Usher syndrome.

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Detection

Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

Special Instructions

Please include fundus photographs, electroretinogram (ERG) findings, visual field findings, and visual acuity, if available, for expert review and clinical correlation with test results.
  • Usher Syndrome: Sequencing Panel
  • Eye Disorders: Comprehensive Sequencing 
  • Eye Disorders: Deletion/Duplication Panel

How to Order