Hearing Loss Gene Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000571066.1
CAP
Registered in GTR: 2020-02-14
Last annual review date for the lab: 2024-10-10 LinkOut
At a Glance
Diagnosis
Hearing Loss/Deafness
ABHD12 (20p11.21); ACTG1 (17q25.3); ADCY1 (7p12.3); ADGRV1 (5q14.3); AIFM1 (Xq26.1) more...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
8004
Lab contact: Help
Jingyu Huang, PhD, Lab Associate Director
jxh951@med.miami.edu
305-243-4856
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order a test:
For specimen requirements and shipping conditions, please check the information page of the desired test(s) located at http://medgen.med.miami.edu/bgdl/test-menu. All specimen tubes should be labeled with the patient’s name and date of birth.

Please fill out the Biochem Lab Requisition Online Form completely (http://medgen.med.miami.edu/bgdl/test-order-form). An incomplete form …
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Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 136
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 500
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
BMGDL laboratory adopts American College of Medical Genetics Guidelines for the variant interpretation. Reference: Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Genomic DNA obtained from the submitted samples are enriched for targeted regions using a hybridization-based technique and sequenced using Illumina technology. Unless otherwise indicated, all targeted regions are sequenced with ≥20x depth. Reads are aligned to a reference sequence (GRCh37), and sequence changes are identified and interpreted in the context … View more
View citations (1)
  • Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E, . ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15(9):733-47. doi:10.1038/gim.2013.92. Epub 2013 Jul 25. PMID: 23887774.
Test Confirmation: Help
Positive test results are confirmed by using Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy 99.99% Sensitivity 99.82% Specificity 99.99% Precision 99.72% Repeatability 99.99% Reproducibility 99.99%
Assay limitations: Help
• This test cannot detect inversions, or other structural variants. • Sensitivity to detect insertions and deletions larger than 15bp is reduced. There is no separate copy number variant analysis performed. Therefore, this test may not detect copy number variants (deletions or duplications). • Expansions and contractions within trinucleotide repeat … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.