Genomic Unity® Hearing Loss Disorders Analysis
Use
Genomic Unity® Hearing Loss Disorders Analysis is a diagnostic test designed to identify genetic variants that cause hearing loss. It uses a whole genome platform to detect all major clinically relevant variant types with a unified clinical report, replacing the need for multiplex ligation dependent probe amplification (MLPA) and single gene or targeted gene panel testing. It also unifies testing for nuclear and mitochondrial genes related to hearing loss.
Special Instructions
Not provided.
Limitations
The test does not fully cover the ADCY1, COL4A6, KCNE1, TPRN and USH1C genes, limiting variant detection. Non-unique regions in KCNE1, OTOA, and STRC genes pose limitations for variant location assignment. Uniquely mappable regions of STRC are used for overall gene copy count determination and interpretation. Short tandem repeats in TBX1 are not reported.
Methodology
NGS
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Please see specimen requirements on the provided link.