ALLELE DIAGNOSTICS INC — Department of Health and Human Services SBIR Phase I: NHLBI

Description

Allele Diagnostics Phase I SBIRProject SummaryAllele Diagnostics is a CLIA certifiedCAP accredited clinical genetics testing laboratory that was formed inOur laboratory focuses on both diagnostic testing and product developmentWe have developed a novel custom designedwhole genome chromosomal microarrayCMAwhich provides results in as little asdays in both prenatal and postnatal settingsThe successful design and development of this assayalong with our staffandapos s extensive experience in processing and analyzing CMA tests and building custom CMA analysis software solutionspositions us to develop rapid phenotype specific CMA testsOur proposed project is to design and develop a comprehensive CHDCongenital Heart Defectsgenecentric CMA testthe Rapid Array Diagnosis for CHD or RAD CHDthat can detect chromosomal aneuploidies and copy number changes at exon level resolutionThe test will be intended for patients with CHD diagnosed either prenatally or at birth when a rapid genetic diagnosis is importantThe product will addresschallenges with current genetic testing methodologyneed for rapid resultscomplexity of genetic testinghigh costlimitations in resolutionThe assay will increase the diagnostic yield of currently available first tier testing methodsprovide a rapid result in as little asdaysreduce testing complexityand decrease costsTo complete this projectwe proposeSpecific AimsDesign a microarray platform capable of detecting exon level copy number changes of genes and gene regions associated with CHD by completingsub aims that will provide us with a framework for designing the platformAssess the performance of the RAD CHD for speed and quality by analyzing a subset of previously characterized samples to verify that results can be reported out in less thanbusiness days from sample receiptandVerify the RAD CHD performs equivalently or better than current testing methods regarding genetic aberration testing and time to resultWith the data and knowledge acquired from Phase I of our SBIRwe plan to submit a Phase II applicationwhich will consist of validating our product within our laboratory according to American College of Medical Genetics and GenomicsACMGguidelinesTo complete thisan extensive comparative study will be performed against current genetic testing methodsOnce validatedthe test will be utilized in a small clinical trial performed at Allele Diagnostics in conjunction with local clinics and hospitalswhich currently refer to Allele Diagnostics for genetic testingOur plan for commercialization will include publishing the results of this study and marketing our product nationally and globally to those physicians who see patients with CHDincluding neonatologistsgeneticistscardiologistsmaternal fetal medicine specialists and fetal surgeons Allele Diagnostics Phase I SBIR ApplicationProject NarrativeAllele Diagnostics is a CLIA certifiedCAP accredited clinical genetics testing laboratory that was formed into focus on diagnostic testing and product developmentOur proposed project is to design and develop a genetic test that can greatly improve costturnaround timeand detection rate for genetic causes of congenital heart defectsCHDsin both prenatal and neonatal settingsCHDs include a wide variety of cardiac lesions and are the most common group of structural birth defectsRapid diagnosis is important for medical management decisionssuch as surgeryto provide adequate education for the familiesand to alleviate parental anxiety