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.
Genetic testing is essential in ALS for confirming diagnoses, particularly in familial cases, by identifying mutations in genes like SOD1, C9orf72, TARDBP, and FUS. It distinguishes between hereditary and sporadic forms of the disease, enhancing our understanding of its etiology. Furthermore, genetic testing supports personalized medicine approaches, allowing for treatments tailored to an individual’s genetic profile and facilitating the selection of appropriate clinical trials targeting specific genetic variations associated with ALS.
What is the Program?
In partnership with Ionis Pharmaceuticals, this program provides no-cost genetic testing for amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by motor neuron impairment in the cortex, brain stem, and spinal cord. No-cost ALS testing is available for patients with a clinical diagnosis or family history of ALS. This program is currently being offered to residents of the U.S. and Canada who meet testing eligibility criteria.The test must be ordered by a qualified healthcare provider.
Candidates for this test are patients in the U.S. and Canada with a clinical or suspected clinical diagnosis of ALS (with or without a family history), or who are pre-symptomatic WITH a family history of ALS. No unaffected patient under 18 can have pre-symptomatic testing. All symptomatic patients under 18 must have clinical features documented on the order.
Collect a blood, saliva, or buccal specimen in the collection tube. For information on ordering specimen kits, see Specimen Collection and Shipping section.
Program Information
The Ionis ALS Testing Program is a collaborative effort designed to advance the understanding and treatment of Amyotrophic Lateral Sclerosis (ALS). This program offers free genetic testing and counseling for individuals diagnosed with ALS to identify genetic mutations that may be contributing to the disease.
This program is available to any individual who has been diagnosed with ALS, regardless of family history. Eligibility requires a confirmed ALS diagnosis and a referral from a healthcare provider.
The program provides comprehensive genetic testing that screens for known ALS-related gene mutations. This includes next-generation sequencing and deletion/duplication analysis to offer a thorough genetic evaluation.
Interested participants need a referral from their neurologist or genetic counselor, who can submit an application on their behalf. The application must include medical records confirming an ALS diagnosis and consent forms signed by the patient.
Participants can gain insights into the genetic basis of their ALS, which can influence treatment decisions and clinical care. Additionally, understanding genetic factors can be vital for family planning and provides eligibility for certain clinical trials.
Results are typically available within a few weeks and are communicated directly to the referring healthcare provider. Participants receive genetic counseling to understand their results and discuss potential implications for treatment and family planning.
For three decades, Ionis has invented medicines that bring better futures to people with serious diseases. Ionis currently has five marketed medicines and a leading pipeline in neurology, cardiology, and other areas of high patient need. As the pioneer in RNA-targeted medicines, Ionis continues to drive innovation in RNA therapies in addition to advancing new approaches in gene editing. A deep understanding of disease biology and industry-leading technology propels our work, coupled with a passion and urgency to deliver life-changing advances for patients. To learn more about Ionis, visit Ionispharma.com and follow us on X (Twitter) and LinkedIn.
