Test Code AIHL Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies
Ordering Guidance
The preferred genetic test for diagnosis in individuals with suspicion of syndromic or non-syndromic hereditary hearing loss is HHLP / AudioloGene Hereditary Hearing Loss Panel, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient/Refrigerated/Frozen
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Collection Kit (T786)
Specimen Volume: 1 swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient
Genetics Test Information
This test detects 2 mitochondrial gene RNR1 (MT-RNR1) variants, m.1555A>G and m.1494C>T, which are the most common variants associated with aminoglycoside induced ototoxicity.
Specimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Saturday
Report Available
1 to 7 days-Specimens must arrive in the performing laboratory by 12 p.m. for the report to be available 1 day from specimen receipt.Specimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: IndefinitelyPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81401