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Retinal Dystrophy Panel
Clinical Genetic Test
Help
offered by
Blueprint Genetics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000552782.3
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2018-07-26
View version history
Last annual review date for the lab: 2023-12-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Retinal dystrophy
Genes (260): Help
ABCA4 (1p22.1); ABHD12 (20p11.21); ACO2 (22q13.2); ADAM9 (8p11.22); ADAMTS18 (16q23.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: 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
Blueprint Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
OP0801
View other test codes
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
Choose the preferred way to order:

1) Online ordering: place the order in Nucleus.

2) PDF ordering: download a form, fill in and mail.

3) Sample kit: use Blueprint Kit with sample tube, requisition form and prepaid return.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 260
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
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: Help
https://blueprintgenetics.com/methods-and-services/
Test Confirmation: Help
Blueprint Genetics confirms all pathogenic or likely pathogenic mutations using Sanger capillary sequencing or qPCR.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
All NGS Panels provided by Blueprint Genetics are sliced from custom high-quality whole exome sequencing assay (xGen Exome Research Panel, IDT). Panels cover all coding exons, exon-intron boundaries (± 20 bps) and selected non-coding, deep intronic variants of the genes included in the panel unless otherwise stated in the panel … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Category: Not Applicable
Additional Information

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.