Usher Syndrome Panel
Use
This test is designed for individuals who have a clinical or suspected diagnosis of Usher syndrome, as well as for those with combined congenital sensorineural hearing loss, retinitis pigmentosa, and vestibular abnormalities. The Usher Syndrome Panel evaluates 12 genes associated with the syndrome, providing a comprehensive analysis to assist healthcare providers in confirming diagnoses, understanding the genetic basis of the disease, and informing patient management decisions. The information gained from this test may also help relatives understand their own genetic risks.
Special Instructions
Ensure specimens are collected following the specified instructions and provide all necessary clinical notes and patient history to aid in the interpretation of results. Please contact the laboratory for additional options such as STAT testing or exome-wide CNV analysis.
Limitations
While the test covers key genes associated with Usher syndrome, it may not detect all genetic variants associated with the condition. Variants outside the targeted regions or with complex genetic presentations might not be identified. This test does not evaluate the full spectrum of genetic changes like deep intronic variants, structural rearrangements, or non-coding regions not included in the assay. Care must be taken in interpreting the results in the context of the entire clinical picture.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided