Follow our progress.

Milestones in our journey to reinvent genetic testing.

View full list

Press Releases

Invitae Announces New Program to Offer Genetic Testing to Aid Diagnosis of Spinal Muscular Atrophy (SMA)

Invitae Announces New Program to Offer Genetic Testing to Aid Diagnosis of Spinal Muscular Atrophy (SMA)

April 27, 2018

Part of the Invitae Network, SMA Identified increases access to genetic testing for people with SMA

Invitae Corporation (NYSE: NVTA), one of the fastest growing genetics companies, today announced that it is launching a new program with Biogen, a leading biotechnology company, to offer genetic testing at no charge to patients suspected of having or clinically diagnosed with spinal muscular atrophy (SMA), a rare, progressive, genetic, neuromuscular disease. The program, SMA Identified, is the latest addition to Invitae’s network of partnerships that connect patients and clinicians to treatment and research.

“We know that genetic testing has the ability to accelerate the diagnostic process, and an early diagnosis could lead to earlier intervention and better medical outcomes for patients with SMA,” said Robert Nussbaum, MD, chief medical officer of Invitae. “We’re pleased to be working together with Biogen on this program, which illustrates how we can help reduce certain diagnostic barriers to ensure patients have access to genetic information.”

The SMA Identified program facilitates access to no-charge genetic testing to help accelerate and/or confirm the diagnosis of SMA. This testing 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

SMA is a neuromuscular disease characterized by:2,3

  • Degeneration of spinal cord 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 strong correlation in many cases.

About the SMA Identified Program

The SMA Identified program is open to all individuals in the United States and Puerto Rico. The genetic test may be helpful to individuals who are:

  • Suspected of having SMA
  • Diagnosed with SMA but do not know their SMN2 copy number
  • Undiagnosed but have a family history of SMA
  • A first-degree relative of an individual diagnosed via SMA genetic testing

It is a requirement for a qualified, U.S.-based healthcare provider to submit the request. Participation in the SMA Identified program is not dependent on any purchase, or recommendation to purchase, of products or services of Invitae or Biogen, nor does participation guarantee access to treatment. While Biogen provides financial support for this program, at no time does Biogen receive identifiable patient information.

For more information on SMA Identified visit and for more information on SMA, visit

About Invitae

Invitae Corporation (NYSE: NVTA) is a genetics company whose mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices.

Safe Harbor Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company’s belief that genetic testing has the ability to accelerate the diagnostic process and that an early diagnosis could lead to earlier intervention and better medical outcomes for patients with SMA. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company’s history of losses; the company’s need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company’s ability to develop and commercialize new tests and expand into new markets; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; risks associated with the company’s ability to use rapidly changing genetic data to interpret test results accurately, consistently, and quickly; the company’s ability to compete; laws and regulations applicable to the company’s business; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Annual Report on Form 10-K for the year ended December 31, 2017. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statement.


  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.



Laura D’Angelo


Return to press releases