Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to the loss of muscle control. ALS causes the motor neurons that control muscle movement to gradually deteriorate and die, resulting in the weakening and wasting away of muscles, impacting the ability to speak, eat, move, and breathe. The exact cause of ALS is not well understood, though it is believed to involve a combination of genetic and environmental factors.
What is the Program?
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.
ALS Identified™ is open to all individuals 18 years or older within the US and Puerto Rico with
A diagnosis of ALS.
Or, a family history of, ALS. This includes patients with familial ALS as well as patients with seemingly sporadic ALS as genetic mutations have been found in people with ALS who have no known family history of the disease.
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.
Program Information
The ALS Identified program is a sponsored genetic testing initiative designed to diagnose and study Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. The program offers genetic testing to identify mutations in genes known to contribute to ALS, aiding in the diagnosis and enhancing understanding of the disease’s genetic basis.
This program is intended for individuals who have symptoms indicative of ALS, such as progressive muscle weakness, slurred speech, and difficulty swallowing, or those with a family history of the disease. A referral from a healthcare provider is required for participation.
The program involves testing for several genes associated with ALS, including SOD1, C9orf72, FUS, and TARDBP, among others. These tests may include both sequencing and repeat expansion analysis to detect a wide range of genetic mutations linked to ALS.
Healthcare providers can enroll patients by submitting a comprehensive application that includes the patient’s medical history, detailed symptoms of ALS, any previous diagnostic test results, and required consent forms. This ensures that the genetic testing is appropriately targeted and clinically justified.
Participants benefit from obtaining a genetic diagnosis, which can help in understanding the progression and prognosis of ALS and potentially qualifying for targeted clinical trials. Moreover, genetic insights can aid family members in understanding their risk and making informed health decisions.
Results from the genetic tests are usually available within several weeks, depending on the specific genes being analyzed and the complexity of the mutations. Results are communicated to the referring healthcare provider, who will discuss them with the patient along with any relevant genetic counseling.
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QALSODY® (tofersen) is an antisense oligonucleotide (ASO) developed by Biogen for the treatment of amyotrophic lateral sclerosis (ALS) in adults with a mutation in the superoxide dismutase 1 (SOD1) gene. It works by binding to SOD1 mRNA to reduce the production of the SOD1 protein, which is linked to the degeneration of motor neurons in ALS. Approved under accelerated approval based on the reduction of plasma neurofilament light chain (NfL), QALSODY® aims to slow the progression of this devastating genetic form of ALS.
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