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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This program offers no-cost access to a 55-gene panel for patients with symptoms that may indicate TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), or LGMD-like presentations with unclear etiology. Because TK2d can clinically overlap with both MDS and LGMD, this broader panel supports efficient evaluation across these disorders. Testing is available at no cost for eligible U.S. patients.
When to consider this test
Patient selection
- Patient shows clinical features suspicious for TK2 deficiency
- Patient has no prior TK2 testing (single-gene or multigene)
- Patient has no prior testing for limb-girdle muscular dystrophy or mitochondrial depletion syndromes
- Patient presents with signs suggestive of LGMD or mitochondrial depletion syndrome, such as proximal muscle weakness, exercise intolerance, or progressive neuromuscular decline
Workflow
How to use this program
- 1
Confirm Eligibility
Confirm the patient meets criteria for TK2 testing and assess whether the larger LGMD/MDS panel is indicated based on clinical features.
- 2
Order Test and Request Kits
Use the TRF to order the panel and request blood collection kits. Ensure patients meet both TK2 and LGMD/MDS-specific eligibility requirements.
- 3
Collect and Ship Specimen
Collect a blood sample (or other acceptable specimen type) and label with two identifiers. Ship per kit instructions; blood is stable up to 8 days refrigerated or room temp, or up to 1 month if frozen and shipped on dry ice.
- 4
Review and Communicate Results
Results typically return in about 21 days; discuss 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
What does this panel evaluate?
It analyzes 55 genes associated with TK2d, mitochondrial DNA depletion syndromes (MDS), and neuromuscular conditions that can resemble LGMD, supporting diagnostic clarification in patients with overlapping presentations.
Which patients are eligible?
Patients must:
• Show clinical features suggestive of TK2d, MDS, or an LGMD-like condition
• Have no prior TK2 testing (single-gene or panel)
• Have no prior MDS or LGMD testing
• Reside in the U.S.
What specimen types are accepted?
This program accepts whole blood, saliva, or buccal swab samples.
What is the turnaround time?
Approximately 21 days after specimen and paperwork are received.
Is genetic counseling included?
Counseling for patients is not included. PreventionGenetics genetic counselors are available to discuss results with ordering providers at +1 715-387-0484 or [email protected].
How are results delivered?
A detailed report is sent to the ordering provider, who is responsible for reviewing the findings with the patient or caregiver.
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