Whole genome sequencing allows doctors to closely analyze a patient's genes for mutations and health indicators. Learn about this procedure.
Gaucher disease is a rare, inherited disorder that causes fatty substances to build up in the spleen, liver and other organs.
Neurogenetics is a field of study that attempts to better understand genetic causes of brain disorders.
Mosaicism is a condition that occurs when a person has two or more genetically separate sets of cells in his or her body.
Birth defects are health problems that are present at birth. They can range from mild to severe, and some babies have more than one.
Developmental delay occurs when a child’s progression through predictable developmental phases slows, stops, or reverses. Learn about symptoms and treatment.
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Whole exome sequencing is a type of genetic sequencing performed from blood or saliva samples. Learn about this procedure.
Polycystic kidney disease is a condition that causes fluid-filled sacs called cysts to grow in the kidneys. Learn about symptoms and treatments.
Laboratory tests that used to take days to come back can now be performed instantly and accurately, using point-of-care tests.