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
The TK2 Deficiency Genetic Testing Program, sponsored by UCB, Inc. and performed by PreventionGenetics, provides no-cost NGS-based sequencing of the TK2 gene for patients presenting with features suggestive of TK2 deficiency. A confirmed molecular diagnosis can meaningfully inform prognosis and care decisions for this rare mitochondrial myopathy. Ordering is straightforward, carries no prescribing or purchase obligation, and the sponsor covers the full cost of testing.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient has suspicious features of TK2
- Patient has not had previous genetic testing for TK2 (either as single gene or as part of any previous panel testing)
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 intended for U.S. patients who present with clinical features suggestive of thymidine kinase 2 deficiency and who meet the program's eligibility criteria. Patients who have already undergone TK2 testing, whether as a single gene or as part of a broader panel, are not eligible. Full eligibility details are available on the program's ordering page.
What does the TK2 deficiency sponsored test cover and what methodology is used?
The program provides single-gene sequencing of TK2 using next-generation sequencing (NGS). Testing is performed by PreventionGenetics (an Abbott subsidiary) in their CAP/CLIA-certified laboratory in Marshfield, Wisconsin. The test is designed to identify pathogenic and likely pathogenic variants in TK2 to support a molecular diagnosis of TK2 deficiency.
What specimen types are accepted and how do I obtain collection kits for TK2 testing?
The TK2 Deficiency Genetic Testing Program accepts whole blood, saliva, or OCD-100 buccal swab specimens. Sample collection kits can be ordered directly through PreventionGenetics when you place the test order. Kits are shipped to your practice, and completed specimens are returned to the lab at no cost.
What is the turnaround time for results from the TK2 deficiency testing program?
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 workup and care planning for patients with suspected mitochondrial myopathy due to TK2 deficiency.
Is there any prescribing or purchase obligation when ordering through the TK2 deficiency program?
There is no prescribing or purchase obligation associated with ordering through the TK2 Deficiency Genetic Testing Program. UCB, Inc. sponsors and funds the program to facilitate earlier molecular diagnosis of TK2 deficiency. The test, specimen kit, and results are provided at no cost to the patient or the ordering clinician.
Is genetic counseling support available with the sponsored TK2 deficiency test?
PreventionGenetics provides experienced laboratory support to help with test selection, ordering, and interpretation of results. Clinicians are encouraged to involve genetic counseling resources as appropriate for their patients, particularly given the implications of a TK2 deficiency diagnosis for prognosis and family planning.
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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