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Test ID 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


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics Hereditary Hearing Loss Patient Information

3. If not ordering electronically, complete, print, and send a Therapeutics Test Request (T831) with the specimen.

Useful For

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

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.

Highlights

This test uses droplet digital polymerase chain reaction to evaluate for the presence of 2 mitochondrial variants associated with aminoglycoside-induced hearing loss.

Method Name

Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

Aminoglycoside-Induced Hearing Loss

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81401

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AIHL Aminoglycoside-Induced Hearing Loss In Process

 

Result ID Test Result Name Result LOINC Value
609786 Specimen 31208-2
609787 Source 31208-2
609788 Result Summary 50397-9
609789 Result 82939-0
609790 Interpretation 69047-9
609791 Additional Information 48767-8
609792 Method 85069-3
609793 Disclaimer 62364-5
609794 Released By 18771-6

NY State Approved

Yes