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Order 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


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.

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Method Description

This test is a droplet digital polymerase chain reaction method for the detection of MT-RNR1 m.1494C>T and MT-RNR1 m.1555A>G associated with aminoglycoside-induced hearing loss. Variant nomenclature is based on the following GenBank Accession number (build GRCh37 [hg19]): NC_012920.1.(Unpublished Mayo method)

Day(s) Performed

Monday through Saturday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81401