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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

This program offers no-cost genetic testing of the TK2 gene for individuals suspected of TK2 deficiency. If you live in the United States and meet eligibility criteria, your provider can order the test, collect a blood sample, and submit it at no cost to you. Results enable accurate diagnosis and support care planning.

Who this may help

Could this be right for you or your family?

  • 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

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 does this test look for?

This test analyzes the TK2 gene to determine whether your symptoms may be caused by TK2 deficiency, a rare mitochondrial disorder that leads to progressive muscle weakness.

Who is eligible for testing?

Testing is available to U.S. residents who have symptoms concerning for TK2 deficiency and have not had prior TK2 genetic testing, either single-gene or part of a panel.

Is the test really no cost?

Yes. If you meet the program criteria, the genetic test is provided at no cost through this sponsored program.

What type of sample is required?

Your provider may collect whole blood, saliva, or a buccal swab, depending on the kit provided.

How long does it take to get results?

Results are typically available in about 21 days after the lab receives your sample and completed paperwork.

Is genetic counseling included?

Genetic counseling for patients and families is not included. Your provider may contact PreventionGenetics genetic counselors to review your results.

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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