Hearing Loss Test
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569708.1
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-12-20
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Diagnosis
Hereditary hearing loss and deafness; ABCD syndrome; Alport syndrome more...
ABHD12 (20p11.21); ACTB (7p22.1); ACTG1 (17q25.3); ADCY1 (7p12.3); ADGRV1 (5q14.3) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
J806
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: 56
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 150
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of select exons
PCR
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
Based on analytical validation studies, Next Generation Sequencing (NGS) has a sensitivity of >99% for identifying single nucleotide variants (SNV).
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.