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SMA Identified

No-charge genetic testing for spinal muscular atrophy (SMA)

The SMA Identified program, sponsored by Biogen and offered through Invitae, provides no charge genetic testing to individuals suspected of having, or clinically diagnosed with, spinal muscular atrophy (SMA).*

Genetic testing is an important step in the journey with SMA. SMA Identified can help by providing access to this genetic testing at no charge to patients. This will provide your healthcare provider (HCP) with a confirmed SMA diagnosis or determination if you are a carrier of the gene mutation that causes SMA.

3 testing options are available

  • Invitae SMA STAT Test: helps confirm the diagnosis of SMA with an expedited turnaround time that determines SMN1 deletion and SMN2 copy numbers. *Results provided within 4 days from when sample is received and ready for processing†
  • Invitae SMA Panel: helps confirm the diagnosis of SMA with comprehensive genetic analysis. The panel provides both SMN1 and SMN2 copy numbers in 10 to 21 days
  • Invitae SMA Carrier Screen (SMN1 gene only): For individuals who may have a family history of SMA, carrier screening may help provide information about the likelihood of passing on an SMN1 gene mutation to children

Your doctor will determine which test is appropriate for you. While a confirmed diagnosis and/or SMN2 copy numbers are both typically required to initiate SMA treatment, testing with SMA Identified does not guarantee access to treatment.

Only a healthcare provider can determine whether genetic testing is appropriate for you.

How no-charge genetic testing can help

Maybe your doctor suspects SMA based upon your symptoms, you have been diagnosed with SMA without genetic confirmation, or you have a family member with SMA and are questioning whether you could be a carrier. The 3 no-charge genetic test options described above could help facilitate diagnosis and the next steps in SMA care.

Genetic testing is the only way to verify an SMA diagnosis or carrier status.

Genetics of SMA

All individuals with spinal muscular atrophy have mutations in both copies of the survival motor neuron 1 (SMN1) gene. As a result, little or no SMN protein is produced by this gene. SMA Identified tests look at whether any of your SMN1 genes are missing or varied, and the SMA STAT Test and SMA Panel look at your survival motor neuron 2 (SMN2) copy numbers to offer you in-depth information about your SMA genetic status.

SMA is usually inherited as an autosomal recessive trait, which means that an individual must get the altered gene from both parents to be affected.

How to participate

Only your healthcare provider can order a genetic test through SMA Identified. Here’s what the process for testing looks like:

  • Consult with your healthcare provider to determine the test option that is right for you
  • Provide a blood or saliva sample‡
  • Your healthcare provider will share your results with you

For patients who are unable to travel, your healthcare provider can determine if you’re a candidate for home sample collection. Not available in all locations.

Talk to your doctor to find out if genetic testing for SMA is appropriate for you.

Frequently Asked Questions (FAQs)

ABOUT THE PROGRAM
  1. WHAT IS SMA IDENTIFIED?
    • The SMA Identified program, sponsored by Biogen and offered through Invitae, offers genetic testing to patients at no charge in order to help accelerate or confirm an SMA* diagnosis or genetic carrier status
    • Genetic testing may be helpful if patients are at least one of the following:
      1. Suspected of having SMA
      2. Diagnosed with SMA but do not know their survival motor neuron 2 (SMN2) copy numbers
      3. Undiagnosed but have a family history of SMA
      4. A first-degree relative of an individual diagnosed via SMA genetic testing
      5. An individual who may have a family history of SMA seeking information about their likelihood of passing on an SMN1 gene mutation to children

  2. WHO CAN PARTICIPATE IN THE SMA IDENTIFIED PROGRAM?
    • SMA Identified is open to all US residents, including residents of Puerto Rico§

  3. WHAT DOES THE PROGRAM COVER?
    • SMA Identified covers the cost of the Invitae SMA Panel, the Invitae SMA STAT Test, and the Invitae SMA Carrier Screen. There is no charge to patients for any of these tests, which must be ordered by a physician§
    • This program does NOT cover treatment for SMA
      1. A confirmed diagnosis and/or SMN2 copy numbers are typically required to initiate SMA treatment, but testing with SMA Identified does not guarantee access to treatment

  4. DOES THE INVITAE SMA PANEL DETECT ALL FORMS OF SMA?
    • No. The panel only tests for SMA that is caused by 5q SMN1 mutations or deletions. This program does not test for other forms of SMA

ABOUT THE GENETIC TEST
  1. WHY SHOULD INDIVIDUALS GET TESTED?
    • Genetic testing may be helpful:
      1. To confirm an SMA clinical diagnosis
      2. To access treatment, as a confirmed diagnosis and/or SMN2 copy numbers are typically required for initiation
      3. To understand the likelihood of passing on an SMN1 gene mutation to children

  2. WHAT TYPE OF TESTS ARE AVAILABLE?
    • 3 different testing options are designed to address a variety of needs:
      1. Invitae SMA STAT Test: STAT testing provides an accelerated turnaround time in determining SMN1 deletion and SMN2 copy numbers.‖ Results are provided within 4 days from when sample is received and ready for processing†
      2. Invitae SMA Panel: For individuals suspected of having SMA or looking to confirm a previous diagnosis, this panel provides SMN1 deletion and SMN2 copy numbers within 10 to 21 days
      3. Invitae SMA Carrier Screen (SMN1 only): For individuals who may have a family history of SMA, carrier screening may help provide information about the likelihood of passing on an SMN1 gene mutation to children
    • Depending on individual needs, specimen collection options include saliva or blood. Specimens are collected at your HCP’s office. If you’re unable to travel, you may be able to provide a specimen at home. Talk with your healthcare provider to determine what collection option is right for you

  3. WHAT DO THE GENETIC TESTS SHOW?
    • The Invitae SMA Panel and SMA STAT Test detect any deletions or mutations of the SMN1 gene. When there are abnormal findings for SMN1, the tests also show SMN2 copy numbers, which, along with SMN1 deletion, may be useful for prognosis
    • The Invitae SMA Carrier Screen detects SMN1 deletions and also detects individuals at risk of being “silent carriers” (individuals who have normal SMN1 copy numbers but may still pass on an SMN1 deletion to their children)
  4. WHAT ARE THE TEST LIMITATIONS?
    • Invitae’s genetic testing platform allows estimation of SMN1 and SMN2 copy numbers with a high degree of accuracy. Deletion of 1 or both copies of the 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 DO THESE GENETIC TESTS TAKE?
    • Results for the Invitae SMA Panel and Invitae SMA Carrier Screen typically can take 10 to 21 days
    • If quicker results are needed, the Invitae SMA STAT Test provides results within 4 days from when the sample is received and ready for processing‖

  6. HOW DO I QUALIFY FOR TREATMENT?
    • Although positive results from genetic testing are typically required to initiate treatment, participation in the SMA Identified program does not guarantee access to treatment

  7. CAN I JUST ORDER A TEST MYSELF?
    • No, your HCP must initiate and order the test on your behalf. The test can only be requested by a US-based HCP
ADDITIONAL QUESTIONS/CONCERNS
  1. WHERE CAN MY HCP FIND MORE INFORMATION?
    • Your HCP can speak with a Biogen representative for more information

  2. I AM WAITING TO HAVE TREATMENT INITIATED BECAUSE I AM REQUIRED TO GET GENETIC TESTING FIRST. IS THERE ANYTHING I CAN DO TO EXPEDITE THE INITIATION PROCESS?
    • Yes, the Invitae SMA STAT Test: STAT testing provides an accelerated turnaround time in determining SMN1 deletion and SMN2 copy numbers. ‖Results are provided within 4 days from when sample is received and ready for processing†

  3. WILL ANY GENETIC OR PERSONAL INFORMATION BE SHARED WITH BIOGEN?
    • While Biogen provides financial support for this program, it does not receive any data that can be used to identify you. Biogen only receives your HCP contact information and information that is not linked to your personal information

* Positive results from genetic testing are typically required to initiate treatment. 1Participation in the SMA Identified program does not guarantee access to treatment.
†Individual reporting time may vary.
‡ Most reliable sample for DNA is blood.
§ 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.
‖This test can only detect deletions of SMN1 and not point mutations. Individuals affected by SMA with pathogenic SMN1 compound heterozygote genotype will not be identified with this test.
This test may not identify rare variants that have not been defined as pathogenic based on clinical precedent.

Reference: 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. Neuromuscular Disorders. 2018;28(2):103-115.

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