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Hearing Loss Advanced Sequencing and CNV Evaluation
Clinical Genetic Test
Help
offered by
Athena Diagnostics
GTR Test Accession: Help GTR000560763.2
INHERITED DISEASENERVOUS SYSTEMEAR, NOSE, THROAT ... View more
Last updated in GTR: 2018-09-14
View version history
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Conditions (249): Help
PHARC syndrome; ABCD syndrome; Abortive cerebellar ataxia; ...
Chromosomal regions/ Mitochondria (13): Help
DFNB1 Locus; MITF; MSRB3; MT-CO1; MT-CO2; ...
Genes (171): Help
ABHD12 (20p11.21), ACTB (7p22.1), ACTG1 (17q25.3), ADCY1 (7p12.3), ADGRV1 (5q14.3), ...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics
View lab's website
Test Order Code: Help
3029
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.
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:
How to Order, Specimen source, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 249
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 13
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 171
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are ≥ 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information

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