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Developmental Eye Disease panel
Clinical Genetic Test
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offered by
Molecular Vision Laboratory
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GTR Test Accession: Help GTR000521504.5
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-01-15
View version history
Last annual review date for the lab: 2024-01-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (107): Help
Isolated microphthalmia 8; 2-hydroxyglutaric aciduria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency more...
Genes (59): Help
ABCB6 (2q35); ALDH1A3 (15q26.3); ATOH7 (10q21.3); B3GLCT (13q12.3); BCOR (Xp11.4) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Vision Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Yes
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: 107
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 59
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
More than 40 samples with known results were retested with the panel. The results are 100% repeatable.
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
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.