TK2 Sequencing (single gene)
Genetic testing of the TK2 gene to identify variants associated with TK2 deficiency, a mitochondrial disorder causing progressive muscle weakness.
Accessed through the Thymidine Kinase 2 Deficiency (TK2d) Sponsored Testing Program•Sponsored by UCB, Inc.•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This program provides no-cost single-gene TK2 testing for U.S. patients with clinical signs suggestive of TK2 deficiency. Providers can order testing, request blood-collection kits, and submit samples to PreventionGenetics. Results are typically available in about 21 days, supporting diagnosis, prognosis, and care decisions for neuromuscular mitochondrial disorders.
When to consider this test
Patient selection
- Patient presents with clinical features suspicious for TK2 deficiency
- Patient has no prior TK2 testing, including standalone TK2 analysis or inclusion of TK2 in any previous multigene panel
Workflow
How to use this program
- 1
Confirm Eligibility
Confirm the patient meets eligibility criteria and determine whether TK2 or panel testing is appropriate.
- 2
Order and Request Kits
Use the TRF to order testing and request blood collection kits as needed.
- 3
Collect and Ship Specimen
Collect a blood specimen, label with two identifiers, and ship per kit instructions. Blood is stable up to 8 days refrigerated or at room temp; frozen samples may be shipped on dry ice.
- 4
Review Results
Results return in about 21 days. Review findings with the patient or caregiver.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
Which patients qualify for testing?
U.S. patients with clinical features concerning for TK2 deficiency who have not had prior TK2 genetic testing (single-gene or part of a panel).
What does the test analyze?
This program provides single-gene sequencing of TK2, used to identify pathogenic variants associated with TK2 deficiency.
What specimens are accepted?
The program accepts whole blood, saliva, or buccal specimens. Follow the instructions in the kit for collection, labeling, and shipping.
What is the turnaround time?
Results are typically available about 21 days after receipt of the specimen and required documentation.
Is genetic counseling included for patients?
No. Patient counseling is not included. PreventionGenetics genetic counselors are available to discuss results with ordering providers at 715-387-0484 or [email protected].
How do I request kits?
Sample collection kits (blood, saliva, or buccal) can be requested through the online kit order form.
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