AudioloGene Hearing Loss Panel, Varies
Use
The AudioloGene Hearing Loss Panel is a genetic test useful for diagnosing both syndromic and nonsyndromic hereditary hearing loss disorders. This comprehensive diagnostic genetic test aims to pinpoint the molecular etiology of hearing loss, thus helping in identifying any other organ systems that may be involved, establishing long-term prognosis, and determining the inheritance pattern and recurrence risk within a family. The test leverages next-generation sequencing to identify single nucleotide and copy number variants in 200 genes associated with hereditary hearing loss, facilitating predictive testing for at-risk family members and ultimately aiding genetic counseling and clinical management of hereditary hearing loss.
Special Instructions
Not provided.
Limitations
Technical limitations include a variable depth of coverage for some target regions. The test may not detect all types of genomic variants due to these coverage issues. Deletions-insertions of 40 or more base pairs, especially those involving mobile element insertions, might be less reliably detected. Furthermore, this test is unsuitable for detecting low levels of mosaicism and cannot differentiate between somatic and germline variants without additional testing. Critical regions may also go unevaluated due to high homology, high guanine-cytosine content, and repetitive sequences. Moreover, deletions/duplications extending beyond the tested genes are not interpreted for haploinsufficiency/triplosensitivity. Updates to gene lists and methodologies are ongoing, with genes possibly being added or removed based on new clinical relevance data.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 99972-2 - Hearing loss multigene analy Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call for instructions if applicable.
Storage Instructions
Ambient preferred, refrigerated also acceptable.