Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel
Use
This test is designed for individuals who have relevant features and a clinical or suspected diagnosis of Pendred syndrome, or who have hearing loss and an enlarged vestibular aqueduct (EVA) identified on temporal bone imaging. It is particularly useful in confirming a diagnosis and guiding management decisions for patients with these specific clinical presentations.
Special Instructions
Not provided.
Limitations
The test may not detect all possible mutations within the genes analyzed. Variants outside the regions covered by NGS or CNV platforms may not be detected. Furthermore, variants present in low sequence complexity or high-GC content regions might not be captured accurately. In some cases, the presence of mosaicism could result in false negative results. Genetic counseling is recommended to interpret ambiguous or unexpected results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
SLC26A4, FOX1, KCNJ10
Gene
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
Collection Instructions
Collect blood samples following standard procedures ensuring no cross-contamination to maintain sample integrity.