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Usher Syndrome Type IF
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's test page
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GTR Test Accession: Help GTR000591216.5
SYNDROMIC DISEASEINHERITED DISEASE
Last updated in GTR: 2024-06-28
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Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (1): Help
Usher syndrome type 1F
Genes (1): Help
PCDH15 (10q21.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Usher syndrome type IF 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
92047
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: 1
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; Risk Assessment
Target population: Help
The Usher syndrome type IF test offers molecular detection of one pathogenic variant in the PCDH15 gene, R245* (c.733C>T), which accounts for greater than 75% of Ashkenazi-Jewish Usher syndrome type IF pathogenic variants. Usher syndrome type IF is an autosomal recessive condition characterized by profound congenital sensorineural deafness and progressive … 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
Alternative Assessment
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, PT Provider, 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.