The Biogen-sponsored SMA Identified program, offered through Invitae, facilitates access to genetic testing at no charge to your patients. There are three options to help accelerate or confirm a diagnosis or carrier status of SMA:*

  • Invitae SMA STAT Test: helps confirm the diagnosis of SMA with an expedited turnaround time that determines SMN1 deletion and SMN2 copy numbers. Results provided within 4 days from sample accessioning
  • Invitae SMA Panel: helps confirm the diagnosis of SMA with comprehensive genetic analysis. The panel provides both SMN1 and SMN2 copy numbers in 10 to 21 days
  • Invitae SMA Carrier Screen (SMN1 gene only): determines an individual’s carrier status for SMA in 10 to 21 days§

Program Features

This program is available to all individuals within the United States|| and may be helpful to your patients who are interested in confirming a diagnosis or determining their carrier status for SMA.

Some features include:

Multiple testing and screening options for individuals at no charge

Easy online ordering of kits and various DNA collection options for saliva and blood

Portal access through Invitae for test or screening results

Option for 4-day STAT testing. Test results within 4 days from sample accessioning

Specimen samples for this program are accepted from the United States|| only. It is a requirement for a qualified, US-based|| healthcare professional to submit the request.

View frequently asked questions about the SMA Identified program

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Visit SMAidentified or contact Invitae Client Services at (800) 436-3037 or clientservices@invitae.com

 

* Positive results from genetic testing are typically required to initiate treatment. 1 Participation in the SMA Identified program does not guarantee access to treatment.
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.
Individual reporting time may vary.
§ This test may not identify rare variants that have not been defined as pathogenic based on clinical precedent.
|| Inclusive of the US and Puerto Rico.
Most reliable sample for DNA is blood.