Usher Syndrome Type IF
GTR Test Accession: Help GTR000591216.4
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2023-07-03
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Diagnosis; Risk Assessment
Usher syndrome type 1F
Genes (1): Help
PCDH15 (10q21.1)
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Usher syndrome type IF test offers molecular detection of …
Not provided
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
CPT codes: Help
**AMA CPT codes notice
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:
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:
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:
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.