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 TK2 gene sequencing for patients presenting with clinical signs suggestive of Thymidine Kinase 2 Deficiency. Sponsored testing removes the cost barrier to a molecular diagnosis that can directly inform prognosis and management decisions in this neuromuscular mitochondrial disorder. Ordering is straightforward, with collection kits shipped to your practice and results delivered by PreventionGenetics.
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 are appropriate for the sponsored TK2 deficiency genetic testing program?
The TK2 Deficiency Genetic Testing Program is designed for U.S.-based patients with clinical features suggestive of TK2 deficiency who meet the program's eligibility criteria. Detailed criteria are provided on the program's ordering page. Ordering the test carries no prescribing or purchase obligation.
What does the sponsored TK2 gene test cover and what methodology is used?
The program offers single-gene sequencing of TK2 using next-generation sequencing. The test is performed by PreventionGenetics (Test Code 12029) at their CLIA-certified, CAP-accredited laboratory in Marshfield, Wisconsin. Results support definitive molecular diagnosis of TK2 deficiency.
What specimens are accepted and how are collection kits obtained for TK2 testing?
PreventionGenetics accepts whole blood, saliva, or OCD-100 buccal swab specimens for TK2 sequencing. Sample collection kits can be ordered directly through the PreventionGenetics ordering portal at no charge. Kits are shipped to your practice, and completed samples are submitted back to the laboratory.
What is the turnaround time for results from the TK2 deficiency genetic test?
Results from the TK2 Deficiency Genetic Testing Program are typically available within 2 to 3 weeks of sample receipt at PreventionGenetics. This timeline supports timely diagnostic and management decisions for patients under evaluation for neuromuscular mitochondrial disease.
Is there any cost or obligation associated with ordering the TK2 deficiency sponsored test?
There is no cost to the patient or the ordering provider. The program's sponsor covers the full cost of TK2 gene sequencing for eligible patients. Ordering carries no prescribing or purchase obligation of any kind.
Is genetic counseling support available through the TK2 testing program?
PreventionGenetics provides experienced laboratory support throughout the testing process, from order placement through results. Their team is available to assist with test selection, specimen logistics, and interpretation questions, helping ensure a smooth workflow for both clinicians and patients.
Which patients are eligible for Thymidine Kinase 2 Deficiency (TK2d) Thymidine Kinase 2 Deficiency genetic testing?
Patients may qualify for Thymidine Kinase 2 Deficiency (TK2d) if they meet the program's eligibility criteria:
- 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
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