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Neurology / GeneticsLimb Girdle Muscular Dystrophy (LGMD)Muscular Dystrophy (MDYS)Duchenne Muscular Dystrophy (DMD)

Invitae Comprehensive Muscular Dystrophy Panel

Analyzes genes linked to inherited muscular dystrophies to support diagnosis, clarify prognosis, and guide care when symptoms or history suggest a neuromuscular disorder.

Accessed through the Detect Muscular Dystrophy Sponsored Testing Program•Sponsored by Sarepta Therapeutics, Muscular Dystrophy Association•Performed by Invitae | Labcorp

Designed to support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

The Detect Muscular Dystrophy Program offers sponsored, no-charge genetic testing and post-test counseling for patients with suspected Duchenne muscular dystrophy, limb-girdle muscular dystrophy, or related neuromuscular disorders. The program is designed to improve access to diagnostic testing, reduce delays in identifying disease etiology, and support clinicians with information that can guide treatment planning and patient counseling.

When to consider this test

Patient selection

  • Provider is evaluating a US-based patient with either a family history of muscular dystrophy* or clinical suspicion of muscular dystrophy supported by one or more of the following:
    • Elevated CK levels
    • Presumptive positive newborn screening result for Duchenne muscular dystrophy
    • Progressive muscle weakness
    • Muscle biopsy showing dystrophic changes or immunohistochemical evidence of a muscular dystrophy subtype
    • Calf hypertrophy or pseudohypertrophy
    • Cardiac or respiratory involvement

Workflow

How to use this program

  1. 1

    Order Test

    Confirm eligibility, obtain consent, and place the order via Invitae’s portal or order form.

  2. 2

    Collect Sample

    Collect the specimen using an Invitae collection kit and return it using the included prepaid label.

  3. 3

    Review Results

    Access results online and use Invitae’s resources to guide your discussion and management plan with the patient.

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 Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). 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

Who can I test through this program?

US-based patients with a family history of muscular dystrophy or clinical features such as elevated CK levels, progressive muscle weakness, biopsy findings, calf hypertrophy/pseudohypertrophy, or cardiopulmonary involvement. The program is not intended for carrier screening of unaffected individuals.

What testing is performed?

Invitae’s Comprehensive Muscular Dystrophy Panel analyzes multiple genes across dystrophinopathies, limb-girdle muscular dystrophies, and related neuromuscular conditions.

How do I place an order?

Orders can be submitted through Invitae’s online portal or with the program order form.

How are samples collected?

Use an Invitae saliva, buccal, or blood collection kit. Return the sample using the prepaid label included with the kit.

When will results be ready?

Results are typically available in 10–21 days once both the sample and completed order form are received.

Is post-test genetic counseling available for my patients?

Yes. Patients tested through this program are eligible for no-charge post-test counseling through Invitae. They can schedule online or call 1-800-436-3037 to arrange an appointment.

Test details

  • ConditionsLimb Girdle Muscular Dystrophy (LGMD), Muscular Dystrophy (MDYS), Duchenne Muscular Dystrophy (DMD)
  • Test typeLarge NGS Panel
  • Test code03291
  • Genes / markers
    53
  • Key genes / markersDMD, CAPN3, LMNA, SGCA, SGCB, SGCD, SGCG, DYSF, FKRP, FKTN, POMT1, POMT2, POMGNT1, POMGNT2, POMK, LAMA2, CAV3, TTN, ANO5
  • SpecimenWhole blood•Saliva•Buccal swab•gDNA
  • Turnaround time10-21 Days
  • LabInvitae | Labcorp
  • Program regionUnited States

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Invitae | Labcorp

Available in: United States

Order test
Print requisition
Order collection kit
Learn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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