Alnylam Act^® Acute Hepatic Porphyrias

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.

Alnylam Act^® hATTR Amyloidosis

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.

Alnylam Act^® Primary Hyperoxaluria Type 1

Primary 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.

Behind the Seizure^TM

Epilepsy

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.

Hypophosphatemia

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored genetic test for patients aged 1 year and older who are suspected of a genetic hypophosphatemia disorder, or who have been clinically diagnosed with XLH and need confirmatory testing.

Invitae Detect Lysosomal Storage Diseases

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.

SMA Identified

Spinal 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.

Uncovering Periodic Paralysis

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.

UCD Genetic Testing Program

Urea cycle disorders (UCDs)

The UCD Genetic Testing Program, sponsored by Horizon Pharma and performed by Invitae, provides access to genetic testing for people suspected of having a urea cycle disorder, and their family members, at no charge.

The UCD Genetic Testing Program breaks down many barriers to genetic testing for UCDs. Through this program, patients suspected of having a UCD, and their family members, have access to genetic testing to help bring them one step closer to diagnosis and appropriate clinical management.