Clinical Biochemical Genetics, Clinical Genetics, Pediatric Medical Genetics

Clinical Biochemical Geneticist focused on mitochondrial disorders, ehlers-danlos syndrome (EDS) & connective tissue disorders, mystery multi-system involved cases, metabolic and inborn errors of metabolism. Evaluation, diagnosis, ongoing management, and genetic testing (nuclear gene sequencing, next gen sequencing, WES (whole exome sequencing) & WGS (whole genome sequencing)).