Leber congenital amaurosis panel
GTR Test Accession: Help GTR000523347.2
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
Leber congenital amaurosis 4; Adult-onset foveomacular vitelliform dystrophy; Bardet-Biedl syndrome 14; ...
AIPL1 (17p13.2), CABP4 (11q13.2), CEP290 (12q21.32), CRB1 (1q31.3), CRX (19q13.33), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
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: 43
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 23
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
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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