Alexandra DeStefano

I specialize in the analysis and manipulation of genetic material on the molecular level, to assist in the diagnosis and management of various medical conditions and chromosomal abormalities such as congenital malformations, developmental delay, dysmorphic syndromes, connective tissue disorders, skeletal dysplasias, inherited neurologic disorders, familial cancers, cystic fibrosis, myotonic dystrophy and Alzheimer's. This work is essential for identifying genetic mutations, pathogens, or other molecular markers associated with diseases. I play a key role in the development and implementation of cutting-edge molecular diagnostic tests, which aid healthcare professionals in making accurate diagnoses and treatment decisions. My focus is to continue to contribute to the advancement of precision medicine, personalized healthcare, and the overall improvement of patient outcomes in the clinical setting.