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Stargardt's
Clinical Genetic Test
Help
offered by
VECMD Retina and Genomics Institute
GTR Test Accession: Help GTR000502383.1
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Registered in GTR: 2013-05-24
View version history
Last annual review date for the lab: 2024-10-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Cone dystrophy 3
Proteins (1): Help
Codanin-1
Methods (1): Help
Molecular Genetics - Linkage analysis: Microarray
Target population: Help
0-30
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
VECMD Retina and Genomics Institute
View lab's website
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Plasma
  • Saliva
Who can order: Help
  • Out-of-State Patients
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Contact us: info@virtualeyecaremd.com
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Genetic counseling
Test additional service: Help
Custom mutation-specific/Carrier testing
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:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Proteins Help
Total proteins: 1
Protein Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Linkage analysis
Microarray
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Target population: Help
0-30
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
3000, 0.98
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

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.