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.
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.
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.
The Ultragenyx Glycogen Storage Disorders Program provides sponsored, no-charge genetic testing for individuals suspected of having a glycogen storage disorder.
This program is available to patients in the US, age 1 year or older, who are suspected of having or have a clinical diagnosis of Glycogen Storage Disease type Ia or type III. See the Test Requisition Form or information provided during ordering for eligibility.
Calcilytix Therapeutics Inc. and Invitae have partnered to offer sponsored, no-charge genetic testing for individuals with an established diagnosis of non-surgical hypoparathyroidism or for individuals who have a first-degree relative with an established diagnosis of genetic 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.
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.
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.
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.
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.
The Ultragenyx Ornithine Transcarbamylase (OTC) Deficiency Program provides sponsored, no-charge genetic testing for individuals suspected of having OTC deficiency or similar urea cycle disorder (UCD).
This program is available to patients in the US, age 8 years or older, who are suspected of having or have a clinical diagnosis of OTC deficiency. See the Test Requisition Form or information provided during ordering for eligibility.
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™ 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.
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.
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.
The Ultragenyx Wilson Disease Program provides sponsored, no-charge genetic testing for individuals suspected of having Wilson Disease.
This program is available to patients in the US, age 12 years or older, who are suspected of having or have a clinical diagnosis of Wilson Disease. See the Test Requisition Form or information provided during ordering for eligibility.
