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Spinal Muscular Atrophy (SMA) Identified Program

Sponsored, no-charge genetic testing
US

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What is the SMA Identified program?

The SMA Identified program facilitates access to genetic testing to help in the diagnosis of SMA or carrier status identification of SMA. The SMA Identified program offers three different testing options to address the needs of your patients. 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.

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Increasing access to genetic testing and counseling

  • About SMA

    SMA is a neuromuscular disease characterized by 2,3:

    • Degeneration of spinal cord motor neurons
    • Skeletal muscular atrophy
    • Weakness commonly involving the limbs

    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

    Learn more

Program eligibility

SMA Identified is open to all individuals within the US (inclusive of Puerto Rico) with a suspected diagnosis of, or family history of, SMA*. The genetic test may be helpful if you are:

  • suspected of having SMA or diagnosed with SMA but do not know your SMN2 copy number

  • undiagnosed but have a family history of SMA

  • a first-degree relative of an individual diagnosed via SMA genetic testing

  • considering getting pregnant, or are already pregnant, and want to determine your SMA carrier status

*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.

Test options

This program offers testing with the following panels. Learn more about the panels in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with patient about their results.

See how it works

Next steps and additional services

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.

About Biogen
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.

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.
SMA-US-1171 03/24

Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.