AvaGen Test for Keratoconus Risk Factors and Corneal Dystrophies
GTR Test Accession: Help GTR000569033.1
INHERITED DISEASEOPHTHALMOLOGYCONNECTIVE TISSUE ... View more
Last updated in GTR: 2019-09-23
Last annual review date for the lab: 2021-09-10 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive; ...
Corneal dystrophy; Avellino corneal dystrophy; Brittle cornea syndrome 2; ...
75 genes
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Refractive candidates or general population
Not provided
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
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
Contact Avellino Lab USA to order sample collection supply kits, including test requisition forms. Buccal swab samples and requisition forms are sent to the lab in pre-paid shipping envelopes. Results are available in 24 to 48 hours via secure web portal.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: AvaGen Test
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: 17
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; Prognostic; Risk Assessment; Screening
Clinical utility: Help
Predictive risk information for patient and/or family members

Target population: Help
Refractive candidates or general population
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Platform:
Illumina AmpliSeq
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
according to CLIA regulations and all pass requirements. 200 samples were used for validation.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
same as patient methods
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.