Hereditary ATTR amyloidosis
Alnylam and Invitae have partnered to offer genetic testing at no charge for adults 18 and over who may carry a gene mutation known to be associated with hereditary ATTR (hATTR) amyloidosis.
The Alnylam Act program was created to potentially enable diagnosis and to provide genetic counseling to help people make more informed decisions about their health.
Invitae, BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals have partnered to offer Invitae's comprehensive epilepsy panel to any child up to 60 months old who has had an unprovoked seizure.
An epilepsy gene panel can bring you closer to understanding what’s causing your patient’s epilepsy, helping your patients and their caregivers benefit from deeper knowledge and timely care.
The Invitae Detect Lysosomal Storage Diseases (LSDs) program provides sponsored, no-charge genetic testing and counseling for people suspected of having a lysosomal storage disease.
Invitae’s Detect LSDs program breaks down many barriers to genetic testing for LSDs. Through the program, individuals suspected of having a lysosomal disease have access to genetic testing and counseling to help bring them one step closer to a diagnosis and the appropriate clinical management.
Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and other neuromuscular disorders
The Detect Muscular Dystrophy genetic testing program provides access to sponsored, no-charge genetic testing and counseling for people suspected of having a muscular dystrophy.
The Invitae Detect Muscular Dystrophy program was created to reduce barriers to genetic testing in order to help shorten the time to diagnosis and improve clinical outcomes.
Spinal muscular atrophy (SMA)
The SMA Identified program, sponsored by Biogen and offered through Invitae, facilitates access to genetic testing at no-charge to your patients.
The SMA Identified program facilitates access to genetic testing to help in the diagnosis of SMA or carrier status identification of SMA.
Primary hyperkalemic or hypokalemic periodic paralysis
Strongbridge Biopharma® has partnered with Invitae to offer a periodic paralysis gene panel test for those who have episodic muscle weakness or temporary paralysis provoked by common triggers for primary hyperkalemic or hypokalemic periodic paralysis.
A periodic paralysis gene panel test can bring you and your patients closer to uncovering the genetic cause behind the attacks of paralysis and muscle weakness caused by hyperkalemic or hypokalemic periodic paralysis. It can help shorten the diagnostic journey and expedite clinical management of the disease.