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 Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.
– While Alnylam provides financial support for this program, tests and services are performed by independent third parties
– Healthcare professionals must confirm that patients meet certain criteria to use the program
– Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient identifiable information. Alnylam may use healthcare professional contact information for research purposes
– Both genetic testing and genetic counseling are available in the U.S. and Canada
– Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product
– No patients, healthcare professionals, or payers, including government payers, are billed for this program
In partnership with AstraZeneca, this program provides no-cost genetic testing to detect TTR gene variants that may lead to hereditary transthyretin amyloidosis (hATTR), a protein misfolding disorder in which deposition of TTR amyloid aggregates causes multisystem organ dysfunction. Proper identification of an underlying pathogenic TTR gene variant is critically important for patients, their offspring, and siblings. No-cost TTR gene testing is available to patients in the US with a clinical diagnosis of ATTR amyloidosis or a family history of hATTR. TTR gene testing for patients meeting eligibility criteria must be ordered by a qualified healthcare provider.
Sponsored by Tenaya Therapeutics, this program offers genetic testing and counseling at no cost for adults 18-65 years of age, with a clinical diagnosis of hypertrophic cardiomyopathy (HCM) who remain symptomatic despite current therapies. The program analyzes a panel of 56 genes known to be associated with HCM, to evaluate for an underlying genetic cause of disease. Approximately 60% of all cases of HCMare due to variants in genes that encode heart muscle proteins. Variants in the MYH7 and MYBPC3 genes are the most common genetic cause of HCM. This program is available within the United States and the test must be ordered by a qualified healthcare provider.
