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§
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:
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 programDOWNLOAD
* 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.