Do you think you have a form of limb-girdle muscular dystrophy (LGMD)?
It is very important for you to get a genetically confirmed LGMD diagnosis! If your doctor tells you that you have an LGMD but doesn’t genetically confirm it, your diagnosis is incomplete.
Knowing the exact form of LGMD or sub-type is important as there are health benefits for confirming an LGMD sub-type through genetic testing. As an example, some treatments like steroids will help patients with one type of LGMD and hurt patients with another type of LGMD, some sub-types can experience complications with the heart, breathing, and/or with anesthesia… so knowing what type of LGMD that you suffer from will help you manage your health. Further, if you want to help researchers and physicians trying to find a cure for your disease by participating in clinical studies and trials, you will need genetic confirmation in order to participate.
Free Testing (USA only)
Lantern Project
Lantern Project offers free genetic testing for LGMD . Sanofi Genzyme is partnering with PerkinElmer Genomics to offer a complimentary genetic testing program called The Lantern Project. No-charge genetic testing offering an LGMD panel test that includes all LGMD subtypes.
Tests can be ordered by your doctor only.
To learn more, visit https://www.perkinelmergenomics.com/lanternproject/ or phone: 1-866-354-2910
Rare Genomes Project at the Broad Institute of MIT and Harvard
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 or phone: 1-617-714-7395
Free Testing (USA/Canada)
Detect Muscular Dystrophy
Detect Muscular Dystrophy offers free genetic testing and counseling for individuals suspected of having muscular dystrophy (including LGMD). The program includes an LGMD panel test for all subtypes.
This program is available to individuals in the US and Canada 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; and Family history of muscular dystrophy.
Sponsored by Invitae. The counseling service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program.
They offer a neuromuscular panel consisting of about 120 different genes and this includes things like testing for duplication/deletion of exons, which traditional testing doesn’t pick up.
Tests can be ordered by you or your doctor. Please note if you order the test directly without your doctor, you will incur a consultation fee.
To learn more, visit https://invitae.com/en/detect-muscular-dystrophy/ or phone: 1-800-436-3037
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
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
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
Automated LGMD Diagnostic Assistant
The Jain Foundation developed ALDA, a free online tool to help physicians diagnose limb-girdle muscular dystrophy (LGMD). ALDA asks a series of clinical questions and predicts the most likely type(s) of LGMD based on clinical presentation and laboratory findings. However, ALDA should not be used as a standalone diagnostic tool and should be confirmed by genetic analysis.
PLEASE NOTE:
The free Genetic Testing program that had once been offered by the consortium of LGMD Foundations/Jain Foundation at LGMD-Diagnosis.org is no longer accepting new applications at this time.
The free genetic testing program that had been managed by MDA in the United States has rolled over to the Lantern Project. All inquiries about the free LGMD Genetic Testing should now go directly to the Lantern Project and not through MDA.
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