Autosomal Recessive Nonsyndromic Hearing Loss via NGS and Sanger of the STRC Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of nonsyndromic hearing loss, especially those with a single heterozygous large deletion or conversion in the STRC gene, as well as reproductive partners of individuals with a known pathogenic variant in the STRC gene. The early and accurate detection of genetic variants in the STRC gene using both NGS and Sanger sequencing methods can help in the diagnosis and appropriate management of affected individuals.
Special Instructions
The test combines Next Generation Sequencing (NGS) and Sanger sequencing for comprehensive analysis. Patients are advised to provide a relevant patient history for optimal interpretation. Specimens should be collected following standard protocols as indicated by the ordering physician.
Limitations
The test focuses on identifying pathogenic variants in the STRC gene. Variants outside the targeted regions may not be detected. Large deletions or duplications that do not directly involve the STRC gene may be missed. Analytical performance is contingent upon the quality and quantity of the submitted specimen.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided