Kidney, Ureter, and Bladder (KUB) StudiesKidney, Ureter, and Bladder (KUB) studies are standard diagnostic imaging procedures used to assess the anatomy of the urinary system. They are commonly utilized for patients experiencing abdominal pain or urinary symptoms. By using a simple X-ray of the abdomen, KUB studies can reveal structural and pathological abnormalities within the kidneys, ureters, and bladder. These studies are particularly valuable in diagnosing kidney stones, urinary...

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...