Neurology sponsored testing programs 

Invitae partners with biopharma companies to offer sponsored testing for patients who meet eligibility criteria

Adult Neurodegenerative Disorders

The Invitae Adult Neurodegenerative Disorders sponsored testing program provides access to sponsored, no-charge genetic testing and counseling for individuals suspected of or at risk of having a neurodegenerative disorder either from clinical symptoms or family history.

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

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® hATTR Amyloidosis (Brazil)

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 help people make more informed decisions about their health.

ALS Identified™

The ALS Identified™ program, sponsored by Biogen and offered through Invitae, facilitates access to no-charge genetic testing for amyotrophic lateral sclerosis (ALS) in patients who meet eligibility criteria.

Through the program, individuals with a diagnosis of ALS or asymptomatic individuals with a family history of ALS have access to no-charge genetic testing to help provide a deeper understanding of their disease or risk, may help inform life choices, including family planning, determine which relatives may be at risk, and/or consider enrollment in clinical trials.

Behind the Seizure® (US and Canada)

Epilepsy

The Behind the Seizure® program offers Invitae's comprehensive epilepsy panel to any child under the age of 8 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.

Behind the Seizure™  (Australia)

Epilepsy

Invitae and BioMarin have partnered to offer Invitae's comprehensive epilepsy panel to any child under 5 years (<60 months) of age who has had an unprovoked seizure and language or motor disturbances.

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.

Behind the Seizure™  (Taiwan)

Epilepsy

Invitae and BioMarin have partnered to offer Invitae's comprehensive epilepsy panel to any child between 24 to 59 months of age who has had an unprovoked seizure and language or motor disturbances.

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.

FindFTD (Australia)

Invitae has partnered with Alector to offer the FindFTD sponsored genetic testing program that provides access to no-charge genetic testing for individuals at risk for, or with, familial frontotemporal dementia (FTD). 

Glycogen Storage Disorders

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.

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.

Invitae Detect Muscular Dystrophy

Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and other neuromuscular disorders

The Detect Muscular Dystrophy genetic testing program provides access to sponsored, no-charge genetic testing and counseling for people suspected of having a muscular dystrophy.

The Invitae Detect Muscular Dystrophy program was created to reduce barriers to genetic testing in order to help shorten the time to diagnosis and improve clinical outcomes.

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.

Ornithine Transcarbamylase (OTC) Deficiency - Urea Cycle Disorder Program

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.

PTC Pinpoint™ 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.

PTC Pinpoint™ 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.

SMA Identified

Spinal muscular atrophy (SMA)

The SMA Identified program, sponsored by Biogen and offered through Invitae, facilitates access to genetic testing at no-charge to your patients.

The SMA Identified program facilitates access to genetic testing to help in the diagnosis of SMA or carrier status identification of SMA.

SMA Identified (Australia)

Spinal muscular atrophy (SMA)

The SMA Identified Australia program, sponsored by Biogen and offered through Invitae, facilitates confirmation of a spinal muscular atrophy diagnosis through no-charge genetic testing.

Spinal Muscular Atrophy (SMA/AME) Genetic Testing Program

Invitae has partnered with Roche to offer the Spinal Muscular Atrophy Genetic Testing Program, which provides access to no-charge genetic testing for individuals in Central America or the Caribbean clinically diagnosed with spinal muscular atrophy (SMA).

This program may help bring your patient 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.

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.

Wilson Disease

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.