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Genomic Unity® Hearing Loss Disorders Analysis
Clinical Genetic Test
Help
offered by
Variantyx, Inc.
GTR Test Accession: Help GTR000613201.1
INHERITED DISEASE
Registered in GTR: 2024-04-01
View version history
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hereditary disease
Genes (318): Help
ABHD12 (20p11.21); ABHD5 (3p21.33); ACOX1 (17q25.1); ACTB (7p22.1); ACTG1 (17q25.3) more...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patients with clinical features consistent with hearing loss with a …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Variantyx, Inc.
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
UO003
View other test codes
LOINC codes: Help
**LOINC codes notice
Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
christine.stanley@variantyx.com
+1 617-209-2090
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
Genomic Unity Hearing Loss Disorders Analysis orders are initiated at https://www.variantyx.com/resources/provider-resources/order-forms/. Following submission, a clinical coordinator will get in touch to send a blood or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.
Order URL
Informed consent required: Help
Yes
Test strategy: Help
When results are not positive, there is an option to reflex up to Genomic Unity Exome Analysis or Genomic Unity Exome Plus Analysis, and Genomic Unity Whole Genome Analysis.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 318
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)
Mutation scanning of select exons
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
Target population: Help
Patients with clinical features consistent with hearing loss with a suspected genetic origin.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Whole genome sequencing (WGS) methodology provides comprehensive access to an individual’s genome including coverage of coding as well as non-coding regions. Whole genome sequencing identifies mitochondrial genome sequence changes analysis with heteroplasmy and large deletions , nuclear genes small sequence changes including single nucleotide variants (SNVs) and small insertions and … View more
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
Not provided
Additional Information
Practice guidelines:
Consumer resources:

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.