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Metabolic / NeurologyThymidine Kinase 2 Deficiency (TK2d)Limb Girdle Muscular Dystrophy (LGMD)Mitochondrial Depletion Syndrome (MDS)

LGMD and MITO Depletion Panel

A 55-gene panel evaluating limb-girdle muscular dystrophy and mitochondrial DNA depletion disorders to help explain progressive muscle weakness and neuromuscular symptoms

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 condition that causes progressive muscle weakness, but it can look a lot like other neuromuscular and mitochondrial disorders. That overlap makes it hard to pin down a diagnosis without genetic testing. This sponsored program, offered with UCB and performed by Prevention Genetics, gives eligible U.S. patients access to a comprehensive 55-gene panel at absolutely no cost to you, helping you and your doctor get clearer answers so the right care can follow.

Who this may help

Could this be right for you or your family?

  • You have symptoms that may suggest TK2 deficiency
  • You have not had previous TK2 genetic testing, either as a single-gene test or part of a panel
  • You have not had previous testing for limb-girdle muscular dystrophy or mitochondrial depletion syndromes
  • You have clinical features that may suggest limb-girdle muscular dystrophy or a mitochondrial DNA depletion disorder

What to expect

How the process works

  1. 1

    Check Eligibility

    Your provider will confirm whether you meet the criteria for the larger panel or if TK2 testing alone is more appropriate.

  2. 2

    Order and Collect Sample

    Your provider orders the test, requests a kit, and collects a blood sample using the instructions included with the kit.

  3. 3

    Sample Is Sent to the Lab

    Your sample is labeled with two identifiers and shipped to the lab following the instructions in the collection kit.

  4. 4

    Receive Your Results

    Your provider receives your results in about 21 days and will review the findings 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 genetic testing program for TK2 deficiency?

The TK2 Deficiency Genetic Testing Program is a sponsored program, offered with UCB, that provides a 55-gene panel called the LGMD and MITO Depletion Panel. It is designed for people who have symptoms that may point to thymidine kinase 2 deficiency, mitochondrial DNA depletion syndromes, or limb-girdle muscular dystrophy. The panel looks across all of these related conditions at once, which can help clarify what is causing your symptoms.

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

Yes, this testing is completely free to you. The program's sponsor, UCB, covers the full cost of the test, so there is no charge, no copay, and no bill sent to you or your insurance. All you need is a healthcare provider to place the order, and you must meet the program's eligibility criteria.

What kind of sample is needed for TK2 deficiency genetic testing?

The TK2 Deficiency Genetic Testing Program accepts a whole blood draw, a saliva sample, or a buccal swab (a gentle cheek swab). Your healthcare provider will order a free sample collection kit, so you do not need to worry about supplies. The flexibility in sample types can be especially helpful for children or anyone who has difficulty with a blood draw.

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

Results from the LGMD and MITO Depletion Panel typically come back in about 2 to 3 weeks after the lab receives your sample. Your ordering healthcare provider will receive the results and go over them with you. That turnaround is relatively quick for a panel of this size and can help move your diagnostic journey forward sooner.

Why does the TK2 deficiency test also look at genes for LGMD and mitochondrial depletion syndromes?

Thymidine kinase 2 deficiency can cause symptoms that closely resemble those of limb-girdle muscular dystrophy and other mitochondrial DNA depletion syndromes. Because these conditions can overlap so much, the program uses a broader 55-gene panel to evaluate multiple possibilities at once. This approach helps your doctor reach a more accurate diagnosis without needing several rounds of separate tests.

Is genetic counseling available through the TK2 deficiency testing program?

Prevention Genetics, the lab that performs the test, notes that their team of experts can help you explore testing options, place an order, and understand results. If you have questions about what your results mean for you or your family, ask your healthcare provider about genetic counseling resources that can provide personalized guidance.

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 that may suggest TK2 deficiency
  • You have not had previous TK2 genetic testing, either as a single-gene test or part of a panel
  • You have not had previous testing for limb-girdle muscular dystrophy or mitochondrial depletion syndromes
  • You have clinical features that may suggest limb-girdle muscular dystrophy or a mitochondrial DNA depletion disorder

Test details

  • ConditionsThymidine Kinase 2 Deficiency (TK2d), Limb Girdle Muscular Dystrophy (LGMD), Mitochondrial Depletion Syndrome (MDS)
  • Test typeLarge NGS Panel
  • Test code12031
  • Genes / markers
    55
  • Key genes / markersCAPN3, DYSF, SGCA, SGCB, SGCD, SGCG, FKRP, ANO5, LMNA, TTN, DES, CAV3, TK2, POLG, RRM2B, MPV17, DGUOK, SUCLA2, SUCLG1, TWNK
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States

Next steps

Share this information with your healthcare provider 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

TK2 Sequencing (single gene)

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

Questions to ask your doctor about LGMD and MITO Depletion Panel

  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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