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HelpTest ID: AHLP AudioloGene Hearing Loss Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Molecular Genetics: Hereditary Hearing Loss Patient Information or a recent clinical note should be submitted along with the sample.
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.
Submit only 1 of the following specimens:
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 whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
Container/Tube: T-25 Flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
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 Neurology Specialty Testing Client Test Request (T732) with the specimen.
Useful For
Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder
Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
Genetics Test Information
Hereditary hearing loss is a genetically heterogeneous condition that can be either syndromic or nonsyndromic in origin.
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 200 genes associated with hereditary hearing loss: ABHD12, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ARSG, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYL1, CRYM, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DMXL2, DNMT, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR2, FGFR3, FITM2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2 (DFNB1), GJB6, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, KARS (KARS1), KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDRG1, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PJVK (DFNB59), PLS1, PNPT1, POLR1B, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RAI1, RDX, RIPOR2 (FAM65B), RMND1, S1PR2, SALL1, SERAC1, SERPINB6, SIX1, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, STRC, SUCLA2, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TUBB4B, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN. See Targeted Genes and Methodology Details for AudioloGene Hearing Loss Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary hearing loss.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Method Name
Sequence Capture and Amplicon-Based Targeted Next-Generation Sequencing, Polymerase Chain Reaction (PCR), Digital Droplet PCR (ddPCR), Sanger Sequencing, and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Reporting Name
AudioloGene Hearing Loss PanelSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Hereditary hearing loss encompasses a heterogeneous group of syndromic and nonsyndromic conditions. A comprehensive diagnostic genetic test is useful to help determine a molecular etiology for hearing loss and, therefore, identify other organ systems that may be involved, establish long-term prognosis, and ascertain the inheritance pattern and recurrence risk within a family.
Individuals with syndromic hearing loss typically have other organ or organ system involvement and may have malformations of the external ear. Individuals with nonsyndromic hearing loss may have abnormalities of the middle ear or inner ear but typically do not have visible abnormalities of the external ear. Additionally, they often do not have additional organ system involvement or other related medical problems.
In developed countries, approximately 50% to 60% of individuals with congenital hearing loss have a genetic etiology. Of those, approximately 70% of individuals have a nonsyndromic condition, and the remaining 30% have one of over 400 syndromes involving hearing loss. Of the individuals with nonsyndromic hearing loss, at least three-quarters have an autosomal recessive condition, approximately 25% of whom have variants in the GJB2 or GJB6 genes.(1)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(2,3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Sloan-Heggen CM, Bierer AO, Shearer AE, et al: Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr;135(4):441-450
2. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
3. Oza AM, DiStefano MT, Hemphill SE, et al: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 Nov;39(11):1593-1613
4. Alford RL, Arnos KS, Fox M, et al: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014 Apr;16(4):347-355
5. DiStefano MT, Hemphill SE, Oza AM, et al: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct;21(10):2239-2247
6. Morton CC, Nance WE: Newborn hearing screening-a silent revolution. N Engl J Med. 2006 May 18;354(20):2151-2164
7. Shearer AE, Hildebrand MS, Smith RJH: Hereditary hearing loss and deafness overview. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated July 27, 2017. Accessed October 25, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1434/
Day(s) Performed
Varies
Report Available
28 to 42 daysTest 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
81430
81431
88233-Tissue culture, skin, solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| AHLP | AudioloGene Hearing Loss Panel | 99972-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619373 | Test Description | 62364-5 |
| 619374 | Specimen | 31208-2 |
| 619375 | Source | 31208-2 |
| 619376 | Result Summary | 50397-9 |
| 619377 | Result | 82939-0 |
| 619378 | Interpretation | 69047-9 |
| 619379 | Additional Results | 82939-0 |
| 619380 | Resources | 99622-3 |
| 619381 | Additional Information | 48767-8 |
| 619382 | Method | 85069-3 |
| 619383 | Genes Analyzed | 48018-6 |
| 619384 | Disclaimer | 62364-5 |
| 619385 | Released By | 18771-6 |
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