Confirming spinal muscular atrophy through genetic testing

 

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

Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with SMA.

The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. This genetic test 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 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.

About SMA

SMA is a neuromuscular disease characterized by2,3:

  • 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

Program eligibility

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Ordering instructions

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Program eligibility

SMA Identified is open to all individuals within the US.* 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 genetic testing

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.

*Inclusive of the US and Puerto Rico.

Invitae Spinal Muscular Atrophy Panel

The Invitae Spinal Muscular Atrophy Panel tests for the 2 genes associated with SMA:

  • SMN1
  • SMN2

Once Invitae receives the sample, you will receive results within 10 to 21 calendar days.

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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 customized 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.

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No-charge ordering made easy

Place your order Collect a specimen Results

To place a paper-based order, download the paper order form.

To place an order online, enter the online ordering portal.

Please remember to enter partner code "SMA" for all online orders.

To collect a specimen:

  1. Order a free specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information, see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar days
  2. If you created an online account, you can view the status of your order and the sample results by logging into your account
  3. You will receive a notification email or fax once the test results are ready

Support every step of the way 

Client services

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

CONTACT

Clinical consult services

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

SUPPORT

Re-requisition

If the SMA genetic test result is negative, you may re-requisition a new analysis for a larger panel within the neurology clinical area within 90 days of receiving the original results for no charge. No new specimen is required (if a positive result is found, a new specimen may be required for confirmation testing).

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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.
  • 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.

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.

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.

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