Sponsored by Biogen and offered through Invitae, a genetic testing provider, ALS Identified is a no-charge genetic testing program for amyotrophic lateral sclerosis (ALS). The program will test for mutations in more than 20 genes that are linked to ALS.
Sponsored by Biogen, this program provides no-cost genetic testing for Friedreich ataxia(FA), a neurodegenerative disease characterized by progressive ataxia (ataxic gait and limbs), dysarthria, dysphagia, decreased proprioception, distal muscle weakness, peripheral sensory neuropathy, absent lower limb tendon reflexes, spasticity, scoliosis, pes cavus, and hypertrophic cardiomyopathy. No-cost FA testing is available for patients 16 years of age or older, suspected of or have a clinical diagnosis of FA, and be a resident of the United States or Puerto Rico. The test must be ordered by a qualified healthcare provider.
The SMA Identified program facilitates access to genetic testing to help in the diagnosis of SMA or carrier status identification of SMA. The SMA Identified program offers three different testing options to address the needs of your patients. 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.
3 testing options are available
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 when sample is received and ready for processing†
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): For individuals who may have a family history of SMA, carrier screening may help provide information about the likelihood of passing on an SMN1 gene mutation to children
[br]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.
