GTR Test Accession:
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GTR000521500.5
Last updated in GTR: 2021-01-15
View version history
GTR000521500.5, last updated: 2021-01-15
GTR000521500.4, last updated: 2020-02-13
GTR000521500.3, last updated: 2019-02-20
GTR000521500.2, last updated: 2016-10-25
GTR000521500.1, last updated: 2016-02-19
Last annual review date for the lab: 2024-01-22
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Predictive
Conditions (28):
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Cone-rod dystrophy 3; Adult-onset foveomacular vitelliform dystrophy; Age related macular degeneration 2; ...
Genes (13):
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ABCA4 (1p22.1), BEST1 (11q12.3), CDH3 (16q22.1), DRAM2 (1p13.3), EFEMP1 (2p16.1), ...
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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Star
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Out-of-State Patients
Contact Policy:
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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:
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Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Not provided
Post-test genetic counseling required:
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Not provided
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Pre-test genetic counseling required,
Post-test genetic counseling required,
Test strategy,
Test development
Conditions
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Total conditions: 28
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 13
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Predictive
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 Procedure:
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Capture based target enrichment of the entire coding regions and exon/intron boundaries.
Test Platform:
None/not applicable
Test Confirmation:
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NGS results are always confirmed by a separate PCR and Sanger sequencing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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More than 40 samples with known results were retested with the panel. More than 99% sensitive for detecting substitution variants in the sequence analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular 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.