Acute Hepatic Porphyrias
Alnylam and Invitae have partnered to offer genetic testing at no charge for patients 16 and over who may carry a gene mutation known to be associated with the acute hepatic porphyrias.
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.
Learn moreHereditary 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.
Learn morePrimary Hyperoxaluria Type 1
Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with primary hyperoxaluria type 1.
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.
Learn moreEpilepsy
BioMarin and Invitae have partnered to offer no-cost Invitae Epilepsy Panel testing for children 2 to 4 years of age, who experienced their first unprovoked seizure after the age of 2 years.
An epilepsy gene panel test can bring you and your patients closer to identifying the genetic cause behind the seizure, thereby shortening the diagnostic odyssey and potentially impacting clinical management.
Learn moreSpinal muscular atrophy (SMA)
Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with SMA.
The SMA Identified program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA.
Learn morePrimary 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.
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