Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies
Use
Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL). Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure. Identifying mitochondrial variants associated with AIHL, allowing for predictive testing of at‑risk family members. The test detects two mitochondrial RNR1 (MT‑RNR1) variants, m.1555A>G and m.1494C>T, the most common variants associated with aminoglycoside‑induced ototoxicity. It employs droplet digital PCR (ddPCR) for detection.
Special Instructions
Not provided.
Limitations
Saliva and blood spot specimens are acceptable but not recommended due to lower DNA yield and potential impact on test performance; specific gene regions unable to be interrogated will be noted. Extracted DNA must be from a CLIA‑certified laboratory; extraction method compatibility is not assured for all platforms; repeat will be attempted if testing fails, failure will be reported and charged. Hematopoietic stem cell transplant history interferes with testing. DNA quality issues may result in failed or incomplete testing.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
MT-RNR1
Gene
Result Turnaround Time
1-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |