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^® Acute Hepatic Porphyrias (Brazil)

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.

Hypoparathyroidism

Calcilytix Therapeutics Inc. and Invitae have partnered to offer sponsored, no-charge genetic testing for individuals with an established diagnosis of non-surgical hypoparathyroidism.

Hypoparathyroidism is estimated to affect ~70-80K individuals in the US. Symptoms of hypoparathyroidism can include hypocalcemia-related neuromuscular (i.e. cramps, paresthesia, and/or seizures), cardiovascular, and neurological (i.e. fatigue and/or cognitive impairment) manifestations. An accurate diagnosis may have an impact on clinical management of the condition. 

Hypophosphatemia

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored, no-charge genetic test for patients aged 6 months or older who are suspected of a genetic hypophosphatemia disorder, who have been clinically diagnosed with XLH and need confirmatory testing, or have a family member with a confirmed XLH diagnosis.  

Hypophosphatemia (Canada)

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored, no-charge 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.

Leukodystrophies Sponsored Testing

The Leukodystrophies sponsored testing program provides access to no-charge genetic testing for individuals suspected of or at risk of having a leukodystrophy or genetic leukoencephalopathy.

Through the program, individuals suspected of or at risk of having a leukodystrophy or genetic leukoencephalopathy have access to no-charge genetic testing to help confirm a suspected diagnosis, provide anticipatory guidance, determine which relatives may be at risk, and/or consider enrollment in clinical trials.

Long-Chain Fatty Acid Oxidation Disorders

The Long-Chain Fatty Acid Oxidation Disorders genetic testing program provides sponsored, no-charge genetic testing for individuals suspected of having long-chain fatty acid oxidation disorders.

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of six rare autosomal recessive disorders. They are caused by defects in the mitochondrial carnitine shuttle or β-oxidation enzymes, which are involved in the conversion of long-chain fatty acids into energy to support the ongoing energy needs of major organ systems, including the heart, skeletal muscle, and liver.

PTC Pinpoint^TM CP Spectrum Program

The PTC Pinpoint™ CP Spectrum genetic testing program, brought to you by PTC Therapeutics and Invitae, provides sponsored, no-charge genetic testing and counseling for eligible individuals in the U.S. and Canada with symptoms suggestive of cerebral palsy in the absence of risk factors for an acquired brain injury. 

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

PTC Pinpoint^TM Neurotransmitter Disorders Program

PTC Pinpoint™ Neurotransmitter Disorders genetic testing program, brought to you by PTC Therapeutics and Invitae, provides sponsored, no-charge genetic testing and counseling for eligible individuals in the U.S. and Canada 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.

THINK ARGININE™

The THINK ARGININE™ genetic testing program, brought to you by Aeglea BioTherapeutics and Invitae, provides sponsored, no-charge genetic testing for eligible individuals in the US with elevated plasma arginine and suspected of having an undiagnosed neuromotor or neurometabolic disease.

This program provides physicians access to genetic testing for patients with persistently elevated plasma arginine and progressively worsening neuromotor, functional and  developmental manifestations. Through this program individuals with a non-differential or undiagnosed neuromotor disorder are one step closer to prompt intervention.

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.