Cockayne Syndrome (ERCC6) Targeted Testing
GTR Test Accession: Help GTR000552577.7
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2024-04-23
Last annual review date for the lab: 2024-02-05 LinkOut
At a Glance
Diagnosis
Cockayne syndrome type 2
Genes (1): Help
ERCC6 (10q11.23)
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
DDC Clinic Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Test short name: Help
ERCC6 Targeted
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Heng Wang, MD, PhD, ABP, Lab Director
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
To order, please complete the requisition that is on our website www.DDCcliniclab.org. Please make sure to complete the billing information and billing and contact name. If possible, please obtain prior authorization before sending the sample to our laboratory. Send EDTA purple top tube overnight delivery to arrive Monday through Friday …
View more
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Targeted testing is specifically for the Old Order Amish common pathogenic variants, ERCC6 c.2709+1G>T and c.1293_1320del.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99-100% Detection Rate
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
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.