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
TK2 deficiency can be difficult to distinguish clinically from other mitochondrial DNA depletion syndromes and certain limb-girdle muscular dystrophies. This UCB-sponsored program provides the LGMD and MITO Depletion Panel, a 55-gene NGS panel performed by Prevention Genetics, at no cost to eligible U.S. patients. The broader panel supports efficient differential evaluation across these overlapping phenotypes in a single test, reducing diagnostic delay without adding cost to the patient or your practice.
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
Which patients are appropriate for the sponsored TK2 deficiency genetic testing program?
The TK2 Deficiency Genetic Testing Program is intended for patients with clinical features suspicious for TK2 deficiency, mitochondrial DNA depletion syndromes, or limb-girdle muscular dystrophy of unclear etiology. Patients must meet the program's specific eligibility criteria. Ordering the test carries no prescribing or purchase obligation.
What genes and methodology does the TK2 deficiency panel cover?
The LGMD and MITO Depletion Panel covers 55 genes associated with TK2 deficiency, mitochondrial DNA depletion syndromes, and limb-girdle muscular dystrophy. Testing is performed via next-generation sequencing (NGS) at Prevention Genetics in Marshfield, Wisconsin. The breadth of the panel supports differential diagnosis across these clinically overlapping conditions in a single assay.
What specimen types are accepted for the TK2 deficiency 55-gene panel?
Prevention Genetics accepts whole blood, saliva, or OCD-100 buccal swab for the LGMD and MITO Depletion Panel. Sample collection kits are provided at no charge when you place the order. The availability of non-blood specimen types can facilitate testing in pediatric patients or those for whom phlebotomy is impractical.
What is the turnaround time for the sponsored TK2 deficiency panel?
The LGMD and MITO Depletion Panel has a turnaround time of 2 to 3 weeks from specimen receipt. Results are returned to the ordering clinician. This timeline supports timely clinical decision-making for patients in the diagnostic workup for TK2 deficiency or related neuromuscular conditions.
Is there any cost to the patient or the ordering clinician for the TK2 deficiency genetic testing program?
There is no cost to the patient or the ordering practice. The program sponsor, UCB, covers the full cost of testing, including the sample collection kit. No insurance billing is involved, and there is no purchase or prescribing obligation associated with ordering the test.
Is genetic counseling support available through the TK2 deficiency testing program?
Prevention Genetics indicates that their team of experts can assist with exploring testing options, placing orders, and interpreting results. For complex cases or detailed post-test counseling needs, consider leveraging your institution's genetic counseling resources alongside the support provided by the lab.
Which patients are eligible 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:
- 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
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