Skip to main content
Premium Trial:

Request an Annual Quote

Horizon, Invitae Partner to Provide Free Genetic Testing for Urea Cycle Disorder

NEW YORK (GenomeWeb) – Horizon Therapeutics has partnered with Invitae for its urea cycle disorder genetic (UCD) testing program, through which individuals who may have the rare genetic condition and their family members will receive testing at no charge.

Invitae will perform genetic testing and Horizon will provide unspecified financial support for the program aimed at improving diagnosis of UCD, a genetic condition that results in toxic elevations of ammonia levels in the blood and brain. Symptoms of this condition can be vague, making it challenging to definitively diagnose patients with this condition, particularly later in life via blood and urine measurements.  

"Earlier access to genetic testing contributes to making an accurate diagnosis so that the clinicians treating these patients can turn more quickly to effective treatments and counseling," Invitae Chief Medical Officer Robert Nussbaum said in a statement.

Within the program, Invitae will provide its Hyperammonemia Panel which assesses 58 genes involved with the enzymes and proteins that produce and detoxify ammonia. The most common form of UCD is caused by alterations in the OTC gene, which is typically passed on maternally through the X chromosome.

"We have learned that many UCD families still do not have access to genetic testing," said Jeffrey Kent, senior VP of medical affairs at Horizon. "This partnership with Invitae will reduce current barriers and facilitate improved access to genetic testing for families with UCDs."

Horizon will not have access to identifiable patient information through this program. Genetic testing and counseling will be available in the US only, and doctors must show that patients meet certain criteria to qualify for free testing.

Invitae has inked a number of partnerships for free genetic testing for other rare conditions, such as epilepsy and primary hyperoxaluria.  

The Scan

Sick Newborns Selected for WGS With Automated Pipeline

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.

Acne-Linked Loci Found Through GWAS Meta-Analysis

Researchers in the European Journal of Human Genetics find new and known acne vulgaris risk loci with a genome-wide association study and meta-analysis, highlighting hair follicle- and metabolic disease-related genes.

Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

A team from China turns to prime editing to correct a retinitis pigmentosa-causing mutation in the PDE6b gene in a mouse model of the progressive photoreceptor loss condition in the Journal of Experimental Medicine.

CRISPR Screens Reveal Heart Attack-Linked Gene

Researchers in PLOS Genetics have used CRISPR screens to home in on variants associated with coronary artery disease that affect vascular endothelial function.