Confirming spinal muscular atrophy diagnosis through genetic testing

Genetic testing options for spinal muscular atrophy (SMA) at no charge to your patients

The SMA Identified program facilitates access to genetic testing to help in the diagnosis of SMA

The SMA Identified program offers testing to address the needs of your patients. Positive results from genetic testing are typically required to initiate treatment. Participation in the SMA Identified program does not guarantee access to treatment. The intent of this program is to make available no-charge testing to patients who are not able to access publicly funded testing.

While Biogen provides financial support for this program, at no time does Biogen receive identifiable patient information.

About SMA

SMA is a neuromuscular disease characterized by2,3,4:

  • Degeneration of spinal cord motor neurons
  • Skeletal muscular atrophy
  • Weakness commonly involving the limbs
  • Progressive muscle weakness over time
  • Decline in motor function
  • Decline in respiratory function
  • Loss of fine motor function previous diagnosis based upon muscle biopsy

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 about SMA diagnosis and care

Program eligibility

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Ordering instructions

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Program eligibility

SMA Identified Australia is open to all individuals within Australia with a suspected or clinical diagnosis of, or family history of, SMA.

Genetic testing with Invitae

The Invitae Spinal Muscular Atrophy Panel confirms previous clinical diagnosis or new genetic diagnosis utilising a more comprehensive analysis that includes read-through variants or other single base changes in the full gene. The panel provides SMN1 deletion and SMN2 copy number in 10 to 21 calendar days.


Invitae’s unique approach to testing SMN1 and SMN2 provides clinically actionable information in a single test

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 customised 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.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with a re-requisition


If you don’t find answers with your initial order of the Invitae Spinal Muscular Atrophy Panel, SMA Identified Australia includes one re-requisition within 90 days to the Invitae Comprehensive Neuromuscular Disorders Panel.

Click here to log into your account, navigate to the order, and click "Add re-requisition”

Family follow-up testing for SMN1 & SMN2 variants

If a positive result is identified in the initial order of the Invitae Spinal Muscular Atrophy Panel, all blood relatives qualify for, and can be tested through, SMA Identified Australia

Click here to log into your account and follow the on-screen prompts. 

Family follow-up testing for variants other than SMN1 & SMN2

If a positive result is identified outside of the SMN1 and SMN2 genes in the re-requisition panel ordered (such as Invitae Comprehensive Neuromuscular Panel), family follow-up testing is available.

Click here and simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. 

Client services

Our team is available to help you through the testing process.


Clinical consult services

Our licensed, board-certified genetic counselors are ready to answer clinician questions.


Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Turnaround: results available within 10–21 calendar days, on average.
  • Sample options: blood and saliva kits provided at no charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development, including board-certified medical geneticists with experience in diagnosing molecular causes of SMA.

About Invitae

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.

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.

Biogen Australia Pty Ltd, Macquarie Park, NSW, Australia, 2113 

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.

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.
4. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC; Emerging Therapies and Challenges in Spinal Muscular Atrophy. ANN NEUROL 2017;81:355–368