Syndromic Hearing Loss Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000522364.1
Last updated in GTR: 2015-04-29
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Hearing Loss/Deafness
ABHD12 (20p11.21); ADGRV1 (5q14.3); ALMS1 (2p13.1); ANKH (5p15.2); ATP6V1B1 (2p13.3) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Test Order Code: Help
EAR03
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 62
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 the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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.