Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders Panel
Use
This test is designed for individuals exhibiting features consistent with dyskeratosis congenita or other telomere biology disorders. It is particularly relevant for those with a clinical diagnosis or suspected diagnosis based on symptoms, short telomere length from flow-FISH testing, or a family history of the disorders without previous genetic testing. It may also be used when specific variant information is not available for a family member previously diagnosed genetically.
Special Instructions
For those seeking testing, it is advised to have accurate clinical information and pedigree documentation as it enhances the interpretation of variants. Tests are performed under CLIA and CAP compliance but are not cleared or approved by the FDA. STAT testing options are available with an added surcharge.
Limitations
The panel may not detect all possible genetic mutations associated with dyskeratosis congenita and related disorders. Challenges in detecting deep intronic variants or structural rearrangements may limit findings. Limitations are inherent to the technology used, including potential issues with coverage and the detection of low-level mosaicism.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided