Dyskeratosis Congenita Panel
Use
This panel assesses individuals suspected to have dyskeratosis congenita or related telomere biology disorders by analyzing multiple genes known to be implicated in the condition. It is intended to support diagnosis, guide clinical management, and inform genetic counseling for families with suspected inherited predisposition affecting telomere maintenance.
Special Instructions
Order via the GeneDx test catalog under rare disorders. The test is included in the Rare Disorders Test Requisition Form (last updated June 2025), under code TB47 in the Dermatologic Disorders section. Refer to that form for the most current gene list and technical limitations. Collection kits (blood or buccal/mouthwash) are supplied by GeneDx with detailed specimen instructions.
Limitations
Testing may not detect deep intronic or promoter variants unless specifically included in gene content; confirmation of variants of unknown significance or negative findings may require further testing or reanalysis. Turnaround times are estimates and may be delayed by billing or clinical review. Specimen quality or insufficient DNA may necessitate recollection.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided