Achromatopsia
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000562566.2
OPHTHALMOLOGYNERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2023-01-16
Last annual review date for the lab: 2023-01-17 Past due LinkOut
At a Glance
Diagnosis
Achromatopsia
ATF6 (1q23.3), CNGA3 (2q11.2), CNGB3 (8q21.3), CNNM4 (2q11.2), GNAT2 (1p13.3), ...
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Any
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Achromatopsia
How to Order: Help
By requisition
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Pre-test and post-test genetic counseling is available for this test
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
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
SeqStudio Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Any
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According to ACMG quide lines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>99% sensitivity for detecting single base variants, small deletions and duplications.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
HGMD, ClinVar, SIFT, Polyphen, HOPE
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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