Comprehensive Hearing Loss NGS Panel + mtDNA
Use
Hearing loss is one of the most common neurosensory disorders and can be genetic or acquired. Hearing loss can affect a person either at birth (congenital) or acquired at any stage of life, even if genetic in etiology.1 Determining the cause or origin of hearing loss in a patient is beneficial as it can enable a personalized approach to their care and treatment options if available. Syndromic hearing loss is characterized as hearing loss accompanied with other symptoms and accounts for 30% of all genetic hearing loss caes.1 Common hearing loss syndromes include Usher, which also causes loss of vision, Waardenburg, which is accompanied by changes in coloring and pigmentation of the hair skin and eyes, and Pendred, which causes dysfunction of the kidneys and thyroid.1-3 Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. This type of hearing loss can affect one ear (unilateral) or both ears (bilateral), and can range in severity of loss from mild to profound, often referred to as “deafness.” In addition to autosomal dominant and recessive forms, nonsyndromic hearing loss can also be classified as X-linked or mitochondrial.4
Special Instructions
Ensure specimens are correctly labeled and stored as per instructions. Contact MNG Genetic Services for guidance on extracted DNA specimens. Follow proper kit instructions for oral swab collection. Maintain cold chain for muscle specimens to avoid rejection.
Limitations
The assay may not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not change copy number of genomic regions. It does not detect repeat expansions. Technical limitations include potential false positives/negatives due to rare genetic variants, pseudogene interference, and other factors. Interpretation is limited by available variant information and sample data. Changes in variant clinical significance may occur over time.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 99972-2
- 50397-9
- 56850-1
- 8251-1
- 80563-0
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; maintain at room temperature or refrigerate at 4°C. Do not freeze.
Storage Instructions
Maintain at room temperature or refrigerate at 4°C.
Causes for Rejection
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | 15 years |
