NEW YORK – Genomenon said on Thursday that it has partnered with Pharming Group to make variant data on two genes associated with a rare immunodeficiency syndrome available to genetic testing labs and others.

纽约——Genomenon周四表示，它已与Pharming集团合作，为基因检测实验室和其他机构提供与罕见免疫缺陷综合征相关的两个基因的变异数据。

Under the terms of the agreement, Genomenon is providing all published variants in the PIK3CD and PIK3R1 genes linked to activated PI3K delta syndrome (APDS) that have been summarized and classified utilizing American College of Medical Genetics (ACMG)/ Association for Molecular Pathology (AMP) guidelines.

根据协议条款，Genomenon正在提供与激活的PI3K-delta综合征（APDS）相关的PIK3CD和PIK3R1基因的所有已发表变体，这些变体已利用美国医学遗传学学院（ACMG）/分子病理学协会（AMP）指南进行了总结和分类。

Additionally, the partners will release curated variant data into Genomenon's Mastermind Genomic Intelligence Platform to allow clinical users to review the curations and classifications to improve diagnostic yield. .

此外，合作伙伴将把精选的变异数据发布到Genomenon的Mastermind Genomic Intelligence平台中，以允许临床用户审查精选和分类，从而提高诊断率。。

Financial and other terms of the deal were not disclosed.

交易的财务和其他条款未披露。

'Pharming's dedication to serving patients with rare diseases is the driving force behind forming partnerships with companies such as Genomenon,' Pharming Senior Director of Molecular Diagnostics Heather McLaughlin said in a statement. 'By providing laboratories, as well as clinicians, with comprehensive and clear variant interpretation data, we are helping to ensure patients with APDS receive earlier, more accurate molecular diagnoses, and ultimately, appropriate medical management.'.

Pharming分子诊断高级总监希瑟·麦克劳克林（HeatherMcLaughlin）在一份声明中说，Pharming致力于为罕见疾病患者提供服务，是与Genomenon等公司建立合作伙伴关系的驱动力通过为实验室和临床医生提供全面而清晰的变异解释数据，我们正在帮助确保APD患者获得更早，更准确的分子诊断，并最终获得适当的医疗管理。”。

APDS is a rare primary immunodeficiency affecting approximately one to two people per million worldwide.

APDS是一种罕见的原发性免疫缺陷，全世界每百万人中约有1至2人受到影响。

Genomenon said previously it is attempting to curate the entire human genome by the end of 2025.

Genomenon此前表示，它正试图在2025年底前整理整个人类基因组。