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^®

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.

Inherited Retinal Disease Gene Testing Program

Invitae is offering a Spark-sponsored genetic testing program at no charge for individuals suspected of having inherited retinal disease (IRD). This program gives patients access to a broad genetic testing panel of approximately 250 genes suspected to be associated with IRDs.

IRDs are a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness. Common IRDs include retinitis pigmentosa, choroideremia, Leber congenital amaurosis, cone-rod dystrophy, and juvenile macular degeneration.

Invitae Detect Cardiomyopathy and Arrhythmia

Hypertrophic cardiomyopathy, dilated cardiomyopathy, long QT syndrome, Brugada syndrome, and other cardiomyopathies and arrhythmias.

The Detect Cardiomyopathy and Arrhythmia program offers sponsored, no-charge genetic testing and counseling for people suspected of having a familial cardiomyopathy or arrhythmia.

Cardiomyopathies and arrhythmias may have a genetic cause that affects prognosis and management. The Invitae Detect Cardiomyopathy and Arrhythmia program was created to reduce barriers to genetic testing and improve clinical outcomes.

Invitae Detect Hereditary Prostate Cancer

The Detect Hereditary Prostate Cancer genetic testing program provides sponsored, no-charge genetic testing and counseling for individuals diagnosed with prostate cancer stage II and above.

Prostate cancer is the leading cancer in males. An estimated 174,000 patients are newly diagnosed each year in the U.S. The Detect Hereditary Prostate Cancer program is designed to determine the germline genetic etiology of prostate cancer to evaluate precision medical and surgical treatment options.

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.

PATH4WARD

Rare primary immunodeficiencies, severe congenital neutropenia, WHIM Syndrome

X4 Pharmaceuticals, Inc. has partnered with Invitae to offer third-party sponsored genetic testing at no charge for individuals who may carry a genetic mutation known to be associated with severe chronic and/or congenital neutropenia (SCN), including WHIM syndrome.

SCN consists of a heterogeneous group of rare hematological diseases characterized by a selective decrease in circulating neutrophils, impaired maturation or trafficking, and higher risk of recurrent severe infections. 

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.

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.