Genetic Testing Programs

No-cost1 testing for LGMD2I/R9

provided by Detect Muscular Dystrophy and The Lantern Project

Finding a Path to a Clear Diagnosis for LGMD2I/R9

Genetic testing is a vital step in managing Limb-Girdle Muscular Dystrophy (LGMD). LGMD2I/R9 has certain risks associated with the sub-type; cardiac and respiratory involvement is more common2–4than in other sub-types. That's why specific diagnosis is important. While BridgeBio does not directly provide a testing program for LGMD2I/R9 at this time, we are committed to helping you find the resources you need.

Clinical Features

Limb-girdle muscular dystrophy type 2I (LGMD2I/R9) is a progressive genetic disease that primarily affects the hip and shoulder muscles. It is characterized by difficulty with mobility, exercise intolerance, and in some cases, cardiac or respiratory involvement.4,5 With over 30 identified LGMD subtypes, genetic testing is the only way to accurately confirm the specific subtype and ensure a proper diagnosis.2,3,6

External Testing Programs

Genetic testing is the only way to confirm a diagnosis of LGMD2I/R9.7 Accurate diagnosis may open new avenues for medical management, including participation in clinical research studies and providing vital information to ensure appropriate care.

  1. Detect Muscular Dystrophy Program

    Invitae offers sponsored, no-charge testing programs to provide access to patients who meet certain eligibility criteria for LGMD. This panel analyzes genes based on currently available evidence to provide a comprehensive test for the genetic causes of LGMD.

    View This Test

  2. The Lantern Project

    The Lantern Project offers a sponsored testing program for LGMD for patients with symptoms suggestive of LGMD, or clinical diagnosis suspected to be LGMD and requiring genetic confirmation.

    View This Test

Is there a cost associated with these external testing programs?

No. Programs like the Lantern Project are complimentary resources offered by third-party organizations to support patients with limb-girdle muscular dystrophy.

Will my patient be billed for using these third-party services?

These specific sponsored programs are designed to be complimentary for eligible patients. Typically, they do not bill insurance or require out-of-pocket payments from the patient.

BridgeBio provides this link for informational purposes only. The suggested sites are third-party websites not affiliated with, or endorsed by, BridgeBio Pharma, Inc. BridgeBio is not responsible for the content, privacy policies, or services provided by these external sites.

References