Deafness, Autosomal Recessive 16 (DFNB16) via MLPA of STRC
Use
This test is intended for individuals with clinical or suspected diagnosis of nonsyndromic hearing loss, those with one previously identified pathogenic variant in the STRC gene, and family members with known STRC deletion, duplication, or gene conversion. It is also relevant for reproductive partners of individuals with a known pathogenic variant in the STRC gene, focusing on detecting deletions, duplications, or gene conversions in the STRC gene associated with hearing loss.
Special Instructions
The test can be ordered with standard institutional pricing by signing in, and there is a STAT testing option available. Orders require a completed online order or paper TRF and labeled specimen for testing initiation. Additional family/comparator demographics can be included on the proband report.
Limitations
The performance characteristics of this test have been validated by PreventionGenetics following CAP and CLIA regulations but it has not been cleared or approved by the FDA. The test is limited to detecting large-scale variants such as deletions, duplications, or gene conversions of the STRC gene and may not detect smaller mutations or sequence-level changes. It is not suitable for detecting pathogenic variants outside of the specified gene targets.
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification Assay)
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