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

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 staffandapos;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.Allele Diagnostics Phase II SBIR Application – Project Narrative:Allele Diagnostics is a CLIA-certified, CAP-accredited clinical genetics testing laboratory that was formed in 2014 to focus on diagnostic testing and product development. Our proposed project continues the development of a genetic test that can greatly improve cost, turnaround time, and detection rate for genetic causes of congenital heart defects (CHDs) in both prenatal and neonatal settings. CHDs include a wide variety of cardiac lesions and are the most common group of structural birth defects. Rapid diagnosis is important for medical management decisions, such as surgery, to provide adequate education for the families, and to alleviate parental anxiety.