Geneticists focus on identifying health issues caused by changes in an individual's DNA. Genetic mutations can cause developmental delay, birth defects, multiple system disorders, or atypical physical features. A geneticist will screen a patient by using cytogenetic, molecular, biochemical, and genomic testing. This allows for single gene and chromosomal disorders, congenital anomalies, inborn errors of metabolism, multifactorial conditions, and common disorders with hereditary factors to be identified.
Medical genetics supports the fields of oncology, pathology, rare diseases, and undiagnosed diseases.
