Leber congenital amaurosis and related disorders Deletion / Duplication panel
GTR Test Accession: Help GTR000559238.1
Last updated in GTR: 2018-01-29
Last annual review date for the lab: 2023-12-22 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Leber congenital amaurosis 1; Leber congenital amaurosis 10; Leber congenital amaurosis 11; ...
AIPL1 (17p13.2), ALMS1 (2p13.1), CABP4 (11q13.2), CEP290 (12q21.32), CLUAP1 (16p13.3), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Individuals whose clinical findings are consistent with the specific disorder.
Not provided
Not provided
Ordering Information
Offered by: Help
HNL Genomics Connective Tissue Gene Tests
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
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
Please use the equisition form and easy-to-use submission instructions available on the CTGT web site
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 5269
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
    Comment: Optional Maternal Cell Contamination (MCC) testing is available for all prenatal tests
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Conditions Help
Total conditions: 20
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 32
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
Individuals whose clinical findings are consistent with the specific disorder.
Is research allowed on the sample after clinical testing is complete? Help
CTGT does not perform research on samples after testing is complete.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation using repeat sequence analysis.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
If applicable, Maternal Cell Contamination testing is performed by an outside CLIA-approved university laboratory.
Analytical Validity: Help
Sensitivity and Specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help

Description of PT method: Help
Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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