Pharming Group starts testing US population for rare genetic anomaly

Pharming Group, along with Invitae Corporation launched its genetic testing navigateAPDS, which has been developed to help physicians identify the patients and their family members, activated PI3K-deltasyndroom (APDS) in the United States and Canada. This was announced by the biotech company on Tuesday morning.

According to Pharming, APDS is an extremely rare primary immunodeficiency disease caused by a genetic mutation and affects approximately 1 to 2 people per million.

Pharmings support for the program will allow free genetic testing and guidance for eligible individuals in the United States and Canada. In addition to making genetic testing available to individuals who may present a clinical picture known to be related to APDS, navigateAPDS will also provide pre-test and post-test genetic counseling through a third party.

“Our collaboration with Invitae is an important step towards easier access to testing, enabling an accelerated and accurate diagnosis for patients suffering from primary immune diseases such as APDS,” said CEO Sijmen De Vries.

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