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Neurology / GeneticsThymidine Kinase 2 Deficiency (TK2d)

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 help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

Thymidine kinase 2 deficiency (TK2d) is a rare neuromuscular condition caused by changes in the TK2 gene. Getting a clear genetic diagnosis can be a turning point, helping you and your care team understand what is happening and plan the best path forward. The TK2 Deficiency Genetic Testing Program, sponsored by UCB, Inc., provides no-cost testing of the TK2 gene for eligible individuals in the United States whose symptoms suggest this condition. Your doctor can order the test and arrange sample collection, and there is no charge to you at any step.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • The patient shows features that raise suspicion of a TK2-related condition
    • The patient has never had genetic testing for the TK2 gene before — not on its own, and not as part of any earlier gene panel

What to expect

How the process works

  1. 1

    Check Eligibility

    Your provider will confirm whether you meet testing criteria and determine if TK2 or panel testing is appropriate.

  2. 2

    Order and Collect Sample

    Your provider orders the test and collects a blood sample using the instructions in the kit.

  3. 3

    Ship the Specimen

    Your provider labels the sample with two identifiers and sends it to the lab following the kit’s shipping instructions.

  4. 4

    Receive Results

    Your provider gets your results in about 21 days and will review them with you.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

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

Common questions about this program

What is the no-cost TK2 deficiency genetic testing program?

The TK2 Deficiency Genetic Testing Program is a sponsored program that provides genetic testing of the TK2 gene at no cost to patients in the United States. It is designed for people whose symptoms suggest they may have thymidine kinase 2 deficiency, a rare neuromuscular condition. Testing is performed by PreventionGenetics, and your healthcare provider can order it on your behalf.

Is the TK2 deficiency genetic test really free, and who pays for it?

Yes, the TK2 genetic test through this program is completely free to you. UCB, Inc. sponsors the program and covers the full cost of testing. You will not receive a bill, and there is no copay or deductible involved. The program exists to help families get answers without financial barriers.

What kind of sample is needed for the TK2 deficiency genetic test?

The TK2 Deficiency Genetic Testing Program accepts a whole blood sample, a saliva sample, or a buccal swab (a gentle swab of the inside of the cheek). Your doctor's office will request a sample collection kit and let you know which option works best for you. Collection is straightforward and can be done at your provider's office.

How long does it take to get results from the TK2 deficiency genetic test?

Results from the TK2 Deficiency Genetic Testing Program are typically available in about 2 to 3 weeks after the lab receives your sample. Your healthcare provider will review the results with you and discuss what they mean for your care. Having a clear genetic answer can help guide important decisions about treatment and management.

Is genetic counseling available with the TK2 deficiency testing program?

Genetic test results can bring up important questions, and your healthcare provider can help you understand what your TK2 gene results mean. If you would like additional support, ask your doctor about connecting with a genetic counselor who can walk you through the findings and next steps in a way that feels clear and manageable.

Who qualifies 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:

  • You have symptoms or clinical features that may suggest TK2 deficiency
  • You have not had previous genetic testing for TK2, either as a single-gene test or as part of a larger panel

Test details

  • ConditionThymidine Kinase 2 Deficiency (TK2d)
  • Test typeTargeted NGS Panel
  • Test code12029
  • Genes / markers
    1
  • Key genes / markersTK2
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States

Next steps

Share this information with your neurologist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Prevention Genetics.

Other Tests in This Program

LGMD and MITO Depletion Panel

Thymidine Kinase 2 Deficiency (TK2d)•UCB, Inc.

Questions to ask your doctor about TK2 Sequencing (single gene)

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

See an issue with this program?

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