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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

Varies

Specimen 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: Indefinitely

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81401