Spinal muscular atrophy genetic testing

Expanding our neuromuscular and neuropathy testing options

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Invitae is excited to announce the addition of testing for Spinal Muscular Atrophy (SMA) to our comprehensive neuromuscular and neuropathy test offering. SMN1 and SMN2 testing is available to order in the following panels:

The test is also available using a paper order form.

About SMA

Individuals with SMA develop progressive muscle weakness and muscle atrophy due to the degeneration of the anterior horn cells in the spinal cord. Age of onset and severity are variable, but symptoms are due to the absence of functioning copies of SMN1, which produces the survival motor neuron protein which is essential for the maintenance of motor neurons. SMN2 is located adjacent to SMN1 and is highly homologous to SMN1. Disease severity can be modified by the number of copies of SMN2 genes a person carries.

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 genes SMN1 and SMN2, comprehensive and accurate testing has not previously been widely available for SMA. For this release, 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 clinically actionable information in a single test.

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