Hearing Loss Advanced Sequencing and CNV Evaluation
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000560763.2
INHERITED DISEASENERVOUS SYSTEMEAR, NOSE, THROAT ... View more
Last updated in GTR: 2018-09-14
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
PHARC syndrome; ABCD syndrome; Abortive cerebellar ataxia; ...
DFNB1 Locus; MITF; MSRB3; MT-CO1; MT-CO2; ...
ABHD12 (20p11.21), ACTB (7p22.1), ACTG1 (17q25.3), ADCY1 (7p12.3), ADGRV1 (5q14.3), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics Inc
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:
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:
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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information

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