Classic view of this page
Usher Syndrome Type IIIA
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's test page
LinkOut
GTR Test Accession: Help GTR000591217.4
CAP
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2023-07-03
View version history
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (1): Help
Usher syndrome type 3
Genes (2): Help
CLRN1 (3q25.1), CLRN1-AS1 (3q25.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Usher Syndrome Type IIIA test offers molecular detection of …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
92048
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
http://www.questdiagnostics.com/

this test is also included the following carrier panels:
QHerit expanded carrier screening panel-test code 94372

fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
http://www.questdiagnostics.com/
View citations (2)
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
The Usher Syndrome Type IIIA test offers molecular detection of one pathogenic variant in the CLRN1 gene, N48K (c.144T>G), which accounts for greater than 95% of Ashkenazi-Jewish Usher Syndrome Type IIIA pathogenic variants. Usher Syndrome Type IIIA is a autosomal recessive condition characterized by progressive hearing and vision loss. Symptoms … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
not applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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 validity = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Laboratory's policy on reporting novel variations Help
not applicable
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.