No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency
Use
The no-cost genetic testing program for Thymidine Kinase 2 (TK2) deficiency is designed for patients suspected of having TK2-related mitochondrial DNA maintenance defects. Accurate diagnosis is critical as TK2 deficiency can result in progressive myopathy, respiratory difficulties, and other severe symptoms. Early genetic confirmation allows for more informed clinical management and potential enrollment in therapeutic trials.
Special Instructions
This test is offered at no cost to qualified patients. Candidates must have suspicious features of TK2 deficiency and must not have undergone previous genetic testing for TK2. To be eligible, attach clinical notes and previous genetic test results with the requisition form. The test requisition form must accompany all specimen submissions to ensure proper processing.
Limitations
While this test targets the TK2 gene specifically, it does not account for all possible genetic variations associated with mitochondrial DNA maintenance defects. Results must be interpreted within the context of the patient's clinical presentation and other laboratory findings. The performance characteristics of this test have been validated by PreventionGenetics but have not been cleared by the FDA, which may limit recognition in certain clinical scenarios.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-5 ml
Minimum Volume
1 ml
Container
EDTA (purple top tube) or ACD (yellow top tube)
Storage Instructions
At room temperature or refrigerated, stable for up to 8 days with a refrigerated gel pack.