Usher Panel by Massively Parallel Sequencing
Use
Usher syndrome is a genetic condition characterized by extensive congenital hearing loss, speech difficulties, premature onset of retinitis pigmentosa, and ongoing vestibular dysfunction. The Usher Panel facilitates the identification of pathogenic variants associated with this syndrome, enabling proper diagnosis and management of affected individuals. Testing is crucial for patients displaying symptoms or those with a known familial incidence of the disorder, allowing for informed decisions regarding genetic counseling and early interventions. It is important for understanding inheritance patterns, which typically follow an autosomal recessive model, necessitating carrier testing in relatives to evaluate risk.
Special Instructions
Patients should ensure detailed family history is available at the time of testing, as it is crucial for interpreting results. It is recommended that patients discuss potential implications and results with a genetic counselor. Samples should arrive within specified time frames, especially for skin biopsies and buccal swabs. Be mindful of shipping conditions to maintain sample integrity, and follow provider guidelines for collection to ensure accuracy.
Limitations
Although the Usher Panel has high detection sensitivity, there are limitations. The panel will not reliably detect copy number variants if they are small (approximately 3 exons), nor will it identify larger structural genomic rearrangements such as inversions. It may also not capture certain non-coding variants including those located in deep intronic regions. As a result, the testing may miss some pathogenic variants that could contribute to the clinical picture, particularly in complex genomic regions that are prone to sequencing challenges due to repetitive sequences.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature by overnight courier; do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |