Phase II: Rapid Array Diagnosis of Congenital Heart Defects (RAD4CHD) Using Allele Diagnostics Rapid Array Chromosomal Microarray Strategy

等位基因诊断第二阶段SBIR -项目总结： Allele Diagnostics是一家CLIA认证，CAP认证的临床遗传学检测实验室，成立于 2014.我们的实验室专注于诊断测试和产品开发。我们已经开发出一种新颖 定制设计的全基因组染色体微阵列（CMA），可在短短2天内提供结果 在产前和产后的环境中。本试验的成功设计和开发，沿着我们的 工作人员在处理和分析CMA测试以及构建定制CMA分析方面的丰富经验 软件解决方案，使我们能够开发快速的表型特异性CMA测试。 在我们项目的第一阶段，我们设计了一个全面的CHD（先天性心脏病）基因为中心的CMA 测试，CHD或RAD 4CHD的快速阵列诊断，可以检测染色体非整倍性和复制 外显子水平分辨率的数量变化。该测试适用于诊断为CHD的患者， 产前或出生时，快速基因诊断是重要的。该产品解决了4个挑战， 目前的基因检测方法：1）需要快速的结果，2）基因检测的复杂性，3）高成本， （4）分辨率的局限性。该检测试剂盒提高了目前可用的快速第一层的诊断率 测试方法，在短短2天内提供结果，降低了测试的复杂性，并降低了成本。在 在该项目的第二阶段，我们计划完成我们的RAD 4CHD的临床验证和商业化。这 包括：1）改进CMA探针设计; 2）升级软件分析工具和基因组数据库; 3)评估和实施实验室自动化技术; 4）验证RAD 4CHD作为临床 5）运行具有CHD适应症的大量样本以评估增量诊断分析; 与标准CMA测试相比，RAD 4CHD的产量。 我们的商业化计划将包括公布诊断产率研究的结果， 在全国范围内将我们的产品销售给那些护理冠心病患者的医生，包括心脏病学家， 遗传学家、心脏病学家和母胎医学专家。该测试将通过多个 分销渠道包括直接销售方法和通过战略合作伙伴销售。

Allele Diagnostics Phase II SBIR – Project Summary: Allele Diagnostics is a CLIA-certified, CAP-accredited clinical genetics testing laboratory that was formed in 2014. Our laboratory focuses on both diagnostic testing and product development. We have developed a novel custom-designed, whole genome chromosomal microarray (CMA) which provides results in as little as 2 days in both prenatal and postnatal settings. The successful design and development of this assay, along with our staff's extensive experience in processing and analyzing CMA tests and building custom CMA analysis software solutions, positions us to develop rapid phenotype-specific CMA tests. In Phase I of our project we designed a comprehensive CHD (Congenital Heart Defects) gene-centric CMA test, the Rapid Array Diagnosis for CHD or RAD4CHD, that can detect chromosomal aneuploidies and copy number changes at exon level resolution. The test is intended for patients with CHD diagnosed either prenatally or at birth when a rapid genetic diagnosis is important. The product addresses 4 challenges with current genetic testing methodology: 1) need for rapid results, 2) complexity of genetic testing, 3) high cost, and 4) limitations in resolution. The assay increases the diagnostic yield of currently available rapid first tier testing methods, providing a result in as little as 2 days, reduces testing complexity, and decreases costs. In Phase II of this project, we plan to finalize our RAD4CHD for clinical validation and commercialization. This includes: 1) refining our CMA probe design 2) upgrading our software analysis tools and genomic databases; 3) evaluating and implementing laboratory automation techniques; 4) validating the RAD4CHD as a clinical assay; and 5) running a large cohort of samples with CHD indications to evaluate the incremental diagnostic yield of the RAD4CHD compared to standard CMA tests. Our plan for commercialization will include publishing the results of the diagnostic yield study and marketing our product nationally to those physicians who care for patients with CHD, including neonatologists, geneticists, cardiologists, and maternal-fetal medicine specialists. The test will be marketed through multiple distribution channels including a direct sales approach and selling through strategic partners.