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.
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.
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.
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.
Only your healthcare provider can order a genetic test through SMA Identified. Here’s what the process for testing looks like:
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.
* 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. Neuromuscul Disord. 2018;28(2):103-115.
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