Cockayne Sydrome Panel
GTR Test Accession: Help GTR000552273.3
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-01-15
Last annual review date for the lab: 2024-01-22 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Age related macular degeneration 5; Cockayne syndrome type 1; Cockayne syndrome type 2; ...
Genes (2): Help
ERCC6 (10q11.23), ERCC8 (5q12.1)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Offered by: Help
Test short name: Help
Cockayne Panel
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
http://www.molecularvisionlab.com
View other test codes
CPT codes: Help
**AMA CPT codes notice
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
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 …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
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: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
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
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
More than 40 samples with known results were retested with the panel. The results are 100% repeatable.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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.