Testing and Diagnosis


Testing and Diagnosis

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Testing and Diagnosis

There are many different genetic sequencing tests and you will need to discuss with your doctor which of the available tests is the most appropriate to determine your diagnosis. Most labs will do “panels” or testing of specific groupings of genes. If your doctor suspects you may have a type of Limb Girdle Muscular Dystrophy (LGMD), for example, they may recommend getting an LGMD panel test.  To evaluate for a diagnosis of dysferlinopathy, also referred to as LGMD2B, LGMDR2, Miyoshi Myopathy 1, the testing would need to include the DYSF gene.

There are many genetic labs to choose from for these tests. Depending on the type of sample required, sample collection and return can often be done through the mail. Most labs have private pay and insurance pay options. Many of the US based companies also accept international samples.  You will need to contact the company to confirm and determine the procedure for international samples.

Regardless of where you obtain genetic testing, we highly encourage you to get a copy of your genetic report.  We believe this could help you control how quickly your eligibility for future clinical trials is determined.

Free (USA only)

Jain Foundation dysferlin-specific sequencing:  The Jain Foundation sponsors testing for patients who are suspected of having dysferlinopathy (LGMD2B/LGMDR2/Miyoshi Myopathy 1). A large NMD panel of more than 100 known NMD genes is utilized for this analysis.  Both clinicians and individuals with suspected dysferlinopathy may apply for testing support by contacting us at We will send you a PDF form to complete and, based on the information on that form, may request additional information.

The Lantern Project: Sanofi Genzyme is partnering with PerkinElmer Genomics to offer a complimentary genetic testing program called The Lantern Project. It offers free diagnostic testing for several disorders, including LGMD.

Rare Genomes Project LGMD: This project enables individuals who have had negative or incomplete results from prior genetic testing to participate in a study using whole-genome sequencing (WGS) to search for additional causes of LGMD. The study will focus on individuals and families who:

  • Have a clinical diagnosis of LGMD
  • Have had prior genetic testing that was negative or did not provide a full genetic explanation
  • Are currently under the care of a neurologist, medical geneticist, or relevant subspecialist
  • Live in the United States
  • Are English-speaking

To learn more details about this study click here

Invitae Detect Muscular Dystrophy. Sponsored no-charge genetic testing and counseling of individuals suspected of having muscular dystrophy.

This program is available to individuals in the US and Canada (see the Invitae website for more information) suspected of having muscular dystrophy with one or more of the following:

  • Progressive muscle weakness
  • Elevated CK levels
  • Presumptive positive DMD from Newborn Screening Program
  • Cardiac or respiratory involvement
  • Calf hypertrophy or pseudohypertrophy
  • Muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for specific muscular dystrophy subtype
  • Family history of muscular dystrophy

The US based companies below also accept international samples.  Please check with the individual companies for details.

Invitae  Toll free (US only): (800) 436-3037, International: +1 (415) 930-4018


EGL Genetics   P: (470) 378-2200, Toll free (US only): (855) 831-7447. Email:

GeneDx  P: (301) 519-2100, Toll free (US only): (888) 729-1206, Email:

Prevention Genetics  P: (715) 387-0484, Email:

Blueprint Genetics  P: (650) 452-9340 Ext. 0, E-mail:

Nationwide Children’s Hospital P: (614) 772-2000, Toll free (US only): (800) 934-6575

Athena Diagnostics P: (800) 394-4493 option 2, International: +1 (508) 756-2886, option 2

Braun CeGaTP: (844-692-3428) E-mail:


Orphanet The website lists clinical labs.  On this site you search for disease name (LGMD2B/LGMDR2) or gene name (DYSF) to find labs that evaluate dysferlin either singly or as part of a panel.

Centogene (Germany) P: +49 (0) 381-80113 416 Email:

CeGaT (Germany) P: +49 7071 565 44-55 Email:


There are self-pay options through our colleagues in Mumbai who work with India patients. Their contact information is:

Centre for Advanced Molecular Diagnostics in Neuromuscular Disorders (CAMDND)
194, Scheme No. 6, Road No 15 Sion-Koliwada, Sion, Mumbai 400022
Tel. +91 22 2407 8300
Dr. Rashna Dastur (
Dr. Pradnya Gaitonde (