Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with SMA.
The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. This genetic test detects SMN1 whole-gene deletions and sequence variants. The test also quantifies SMN2 copy number, which, along with SMN1 deletion, may be useful for prognosis. Genetic testing is a key diagnostic step for individuals suspected of having SMA. Positive results from genetic testing are typically required to initiate treatment.1 Participation in the SMA Identified Program does not guarantee access to treatment.
While Biogen provides financial support for this program, at no time does Biogen receive identifiable patient information.
SMA is a neuromuscular disease characterized by2,3:
SMA results from insufficient survival motor neuron (SMN) protein in motor neurons. The SMN1 gene is the primary producer of SMN protein, which is critical for the survival of motor neurons. Patients with SMA lack the SMN1 gene and rely on a closely related gene called SMN2. SMN2 is present in all individuals with SMA and has the ability to produce functional, full-length SMN protein. Although disease severity may not always be predicted by the number of SMN2 copies, there is a strong correlation in many cases.1,3
SMA Identified is open to all individuals within the US.* The genetic test may be helpful if you are:
Specimen samples for this program are accepted from the United States* only. It is a requirement for a qualified, US-based* healthcare provider to submit the request.
*Inclusive of the US and Puerto Rico.
The Invitae Spinal Muscular Atrophy Panel tests for the 2 genes associated with SMA:
Once Invitae receives the sample, you will receive results within 10 to 21 calendar days.
Given the high level of similarity between the SMN1 and SMN2 genes, comprehensive and accurate testing has not previously been widely available for SMA. We developed a customized methodology to identify SMN1 copy number, enhance detection of compound heterozygous mutations in SMN1, and determine accurate SMN2 copy number, thereby increasing our ability to provide you and your patients with clinically actionable information in a single test.
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To place a paper-based order, download the paper order form. To place an order online, enter the online ordering portal. Please remember to enter partner code "SMA" for all online orders. |
To collect a specimen:
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To receive results:
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If the SMA genetic test result is negative, you may re-requisition a new analysis for a larger panel within the neurology clinical area within 90 days of receiving the original results for no charge. No new specimen is required (if a positive result is found, a new specimen may be required for confirmation testing).
Learn more
Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.
At Biogen, our mission is clear: we are pioneers in neuroscience. Since our founding in 1978 as one of the world’s first global biotechnology companies, Biogen has led innovative scientific research with the goal over the last decade to defeat devastating neurological diseases.
Please note: DNA studies do not constitute a definitive test for the selected condition(s) in all individuals. If you are a patient and genetic test results are positive, talk to your healthcare provider to discuss treatment options.
References
1. Mercuri E, Finkel RS, Muntoni F et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115.
2. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC et al. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015.
3. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133.
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