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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

This no-cost program, offered with UCB, provides genetic testing for people who may have TK2 deficiency (TK2d) or another neuromuscular or mitochondrial condition with similar symptoms. Because TK2d can resemble mitochondrial DNA depletion syndromes (MDS) and some limb-girdle muscular dystrophies (LGMD), this broader 55-gene panel helps clarify the cause. Testing is available at no cost for eligible U.S. patients.

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 this genetic test?

It’s a no-cost genetic test that analyzes 55 genes linked to TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), and certain limb-girdle muscular dystrophy (LGMD)–like conditions. It can help clarify the cause of muscle weakness or related symptoms.

Who is eligible?

You may be eligible if you have symptoms that suggest TK2d, MDS, or an LGMD-like condition and have not had prior testing for TK2, MDS, or LGMD. Your provider will confirm whether you meet the program criteria.

What kind of sample is needed?

The test can be performed using whole blood, saliva, or a buccal swab, collected using the kit provided by the lab.

How long do results take?

Results are typically sent to your healthcare provider about 21 days after the lab receives your sample and required forms.

Is genetic counseling included?

Genetic counseling for patients and families is not included. However, PreventionGenetics genetic counselors are available to discuss results with your provider.

How will I receive my results?

Your provider will review the results with you and explain any next steps.

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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