Hereditary Hearing Loss and Deafness Panel
Use
This test is intended for individuals who present with features consistent with hereditary hearing loss or deafness. It is suitable for individuals with conductive, sensorineural, or mixed hearing loss at any age of onset. The test is also applicable for both syndromic and nonsyndromic forms of hearing loss. It can aid in confirming a clinical diagnosis of hereditary hearing loss, contribute to the identification of a genetic cause, and assist in determining the appropriate management and genetic counseling.
Special Instructions
The Hereditary Hearing Loss and Deafness Panel requires a blood, DNA, buccal, saliva, or tissue sample for the exome platform, while the genome platform requires blood or DNA samples. The test uses NGS with CNV analysis on either an Exome or Genome platform and has a turnaround time of 2-3 weeks with STAT options available. It is important to ensure that the samples are collected and stored appropriately based on the specific platform used.
Limitations
The test may not identify all genetic causes of hereditary hearing loss and deafness. It is designed to analyze 236 genes related to hearing loss. Variants in regions not covered by the platform or the presence of complex rearrangements, deep intronic variants, or regulatory region variants may not be detected. The sensitivity and specificity of exome-wide CNV detection may vary depending on the platform and genetic context.
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