Developmental Eye Disease panel
GTR Test Accession: Help GTR000521504.5
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-01-15
Last annual review date for the lab: 2024-01-22 LinkOut
At a Glance
Diagnosis
Isolated microphthalmia 8; 2-hydroxyglutaric aciduria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; ...
ABCB6 (2q35), ALDH1A3 (15q26.3), ATOH7 (10q21.3), B3GLCT (13q12.3), BCOR (Xp11.4), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
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
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:
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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