Biogen, together with Invitae, is offering no-charge genetic testing to individuals suspected of having or clinically diagnosed with spinal muscular atrophy (SMA). The SMA Identified Program helps facilitate access to genetic testing to help accelerate or confirm the diagnosis of SMA. When appropriate blood or saliva samples are received, results are expected to be available within 10 to 21 calendar days.

Earlier diagnosis could help inform next steps in SMA care

Depending on your individual needs, different testing methods are available, including: blood kits, heel stick blood kits, saliva kits, and assisted saliva kits. These are available to be taken at your HCP’s office or your home. Discuss with your HCP which option is right for you.

The SMA Identified Program offers testing with the Invitae Spinal Muscular Atrophy Panel, which tests for 2 genes associated with SMA:

  • Survival motor neuron 1 (SMN1)
  • Survival motor neuron 2 (SMN2)

SMA genetic testing:

Detects if any SMN1 genes are missing or varied

Counts SMN2 copy number, which may be useful for prognosis

Is a key diagnostic step for individuals suspected of having SMA, as positive results from genetic testing are typically required to start treatment*

Find out if you’re eligible for a no-charge genetic test

This program is available to all US residents, including residents of Puerto Rico. The genetic test may be helpful if you are:

Suspected of having SMA

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 testing

Speak with your HCP to learn more

Frequently Asked Questions (FAQs)

Below is a list of answers to commonly asked questions about the SMA Identified program, genetic testing, and other helpful information to help facilitate your discussions with your HCP.

About the program

  1. What is SMA Identified?

    SMA Identified offers a no-charge program to eligible patients, which is offered by Biogen and Invitae to provide access to genetic testing to help accelerate or confirm the diagnosis of SMA.

  2. Who is eligible for the SMA Identified Program?

    SMA Identified is open to all US residents, including Puerto Rico. The genetic test may be helpful if you are at least one of the following:

    • Suspected of having SMA
    • 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
  3. What does the program cover?
    • SMA Identified covers the cost of the Invitae SMA Panel, which tests for SMN1 deletion and SMN2 copy number for all individuals tested
    • If the SMA genetic test result is negative, your HCP may request a new analysis for a larger panel within the neurology clinical area within 90 days of receiving the original results for no charge. For this, no new sample is required
    • If a positive result is found, your HCP at his/her discretion may request a repeat test and in this case, a new sample may be required
    • This program does NOT cover treatment for SMA
  4. Does the Invitae SMA Panel detect all forms of SMA?

    No. The panel only tests for 5q-SMA that is caused by mutations or deletions in the SMN1 gene. This program does not test for other forms of SMA.

About the genetic test

  1. Why should I get tested?

    Genetic testing may be helpful:

    • To confirm clinical diagnosis
    • To access treatment, as positive results are typically required for initiation
  2. What type of test is available?
    • This test is available as either a blood test or saliva test
    • SMA Identified also offers the availability of home testing. If it is difficult to travel to a testing center, mobile phlebotomy is offered in the continental United States for a blood test at no additional charge. Talk to your HCP about scheduling an appointment. Appointments must be scheduled at least 3 days in advance. Alternatively, your HCP may be able to request saliva kits to be shipped directly to your home. It is important for you to carefully follow the collection instructions
  3. What does the genetic test show?
    • This genetic test detects any deletions or mutations of the SMN1 gene. The test also counts SMN2 copy number, which, along with SMN1 deletion, may be useful for prognosis
    • Positive results from genetic testing are typically required to initiate treatment. Participation in the SMA Identified Program does not guarantee access to treatment
  4. What are the limitations of this test?

    Invitae’s platform allows estimation of SMN1 and SMN2 copy number with a high degree of accuracy. Deletion of one or both copies of SMN1 gene is then easily determined. However, in some instances, rare mutations or unusual molecular events affecting SMN1 may lead to a false negative result since the test cannot determine if a copy of SMN1 is functional or not.

  5. How long does this genetic test take?

    Once Invitae receives the sample, results will be received within 10 to 21 calendar days.

  6. If I get tested, do I qualify for treatment?

    Participation in the SMA Identified Program does not guarantee access to treatment. However, positive results from genetic testing are typically required to initiate treatment.

  7. Can I just order the test myself?

    No, your HCP must initiate and order the test on your behalf. The test can only be requested by a US HCP.

Additional Questions/Concerns

  1. Where can my HCP find more information?

    Your HCP can speak with a Biogen representative for more information.

  2. Will any genetic or personal information be shared with Biogen?

    While Biogen provides financial support for this program, at no time does Biogen receive identifiable patient information. Biogen receives HCP contact information as well as de-identified information.

The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. While Biogen, Inc. provides financial support for this program, tests and services are performed by an independent third party, Invitae. HCPs must confirm that patients meet certain criteria to use the program. Biogen, Inc. receives de-identified patient data from this program, but at no time does Biogen, Inc. receive patient identifiable information. Biogen, Inc. receives contact information for HCPs who use this program. HCPs who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Biogen, Inc. product or other Invitae product or service.

* Participation in the SMA Identified Program does not guarantee access to treatment.

Specimen samples for this program are accepted from the United States only. It is a requirement for a qualified, US-based HCP to submit the request.
While Biogen provides financial support for this program, at no time does Biogen receive identifiable personal information. Genetic testing does not constitute a definitive test for the selected conditions(s) in all individuals.

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