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HelpTest 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 Information3. 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
Special Instructions
Method Name
Droplet Digital Polymerase Chain Reaction (ddPCR)
Reporting Name
Aminoglycoside-Induced Hearing LossSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
An interpretive report will be provided.
Clinical Reference
1. Gao Z, Chen Y, Guan MX: Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity. J Otol. 2017 Mar;12(1):1-8
2. Krause KM, Serio AW, Kane TR, Connolly LE: Aminoglycosides: An overview. Cold Spring Harb Perspect Med. 2016 Jun 1;6(6):a027029
3. Qian Y, Guan MX: Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother. 2009 Nov;53(11):4612-4618
4. Usami S, Nishio S: Nonsyndromic hearing loss and deafness, mitochondrial. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated June 14, 2018. Accessed March 15, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1422/
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 |