When a patient presents non-classical signs of developmental delay, skeletal defects and impaired cognitive function, these signs can often indicate that there is a mutation in a key gene that can be linked to a specific gene location on the chromosome. To obtain a clear diagnosis, clinicians must perform a molecular genetic analysis.
Children’s Hospital Los Angeles has led efforts in the area of genetic analysis by establishing a Clinical Laboratory Improvement Amendments – certified laboratory. This laboratory, built from the Las Madrinas Endowment for Molecular Genetics, performs chromosomal microarray analysis (CMA). CMA has doubled the diagnosis rate of patients from 35 to 70 percent. The Las Madrinas Endowment for Molecular Genetics provides a dependable source of funds that enable Dr. Triche and his collaborators to pursue innovative techniques that lead to better outcomes for patients.