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.

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.

Hypophosphatemia

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored genetic test for patients aged 6 months or older who are suspected of a genetic hypophosphatemia disorder, or who have been clinically diagnosed with XLH and need confirmatory testing.

PTC Pinpoint^TM

PTC Pinpoint, a sponsored genetic testing program brought to you by PTC Therapeutics and Invitae, provides sponsored, no-charge genetic testing and counseling for individuals in the US suspected of having a neurotransmitter disorder, such as aromatic L-amino acid decarboxylase (AADC) deficiency.

Individuals tested through the program have access to genetic testing and counseling to help bring them one step closer to a diagnosis and the appropriate clinical management.

UCD Genetic Testing Program

Urea cycle disorders (UCDs)

The UCD Genetic Testing Program, sponsored by Horizon Therapeutics 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.