Diagnostic Testing Options

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/LGMD2B/Miyoshi Myopathy 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/Miyoshi Myopathy). We utilize a large NMD panel of more than 100 known NMD genes for this analysis.  For doctors, we will soon have our new Clinic Support Program page added and in the meantime you can email us at patients@jain-foundation.org for details on this program and its screening process.  For patients, please email us at patients@jain-foundation.org.  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.  https://www.perkinelmergenomics.com/lanternproject/ 

The Muscular Dystrophy Association (MDA) offers free genetic testing for LGMD.  Individuals must be registered with the MDA to receive the MDA’s LGMD genetic testing service. To register with the MDA, contact the MDA National Resource Center at 800-572-1717 or e-mail resourcecenter@mdausa.org

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, go to: https://raregenomes.org/limb-girdle-muscular-dystrophy

USA/International

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 

Perkin Elmer Genomics P: (866) 354-2910

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

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

Prevention Genetics  P: (715) 387-0484, Email: clinicaldnatesting@preventiongenetics.com 

Blueprint Genetics  P: (650) 452-9340 Ext. 0, E-mail: support.us@blueprintgenetics.com 

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 

B. Braun CeGaT P: (844-692-3428) E-mail: info@bbrauncegat.com

Europe

Go to the orphanet site.  They list clinical labs - https://www.orpha.net/consor/cgi-bin/ClinicalLabs.php?lng=EN.  On this site you search for disease name (LGMD2B) 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: customer.support@centogene.com

CeGaT (Germany) P: +49 7071 565 44-55 Email: diagnostic-support@cegat.de

India

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 (rdastur@hotmail.com)
Dr. Pradnya Gaitonde (psgaitonde@hotmail.com