Kari A. Casas, MD
Board-Certified Clinical and Biochemical Geneticist

Dr. Kari Casas offers comprehensive medical genetics evaluations for pediatric and adult patients with a wide range of inherited conditions including the following:

Pediatric patients
· Infants with positive results of newborn screening or congenital anomalies
· Children with unusual physical features; delays in growth, language, motor skills, or social interaction; or regression in development
· Children with unexplained or familial loss of hearing or vision
· Children with inborn errors of metabolism (eg, phenylketonuria (PKU), galactosemia, and disorders requiring enzyme replacement therapy (ERT) such as Gaucher disease, Fabry disease, Hunter syndrome, Hurler syndrome, and Pompe disease)

Adult patients
· Individuals with chronic genetic diseases, such as cystic fibrosis, neurofibromatosis, and achondroplasia
· Individuals with cancer at an early age (under 50), a rare type of cancer, more than one type of cancer, bilateral cancer, or two or more family members with cancer
· Individuals with personal or family history of neurodegenerative or neuromuscular disorders
· Individuals with a personal or family history of early onset heart disease (under 55 in men or under 65 in women)
· Individuals with unexplained or familial loss of hearing or vision Obstetric patients
· Women who are pregnant, or planning a pregnancy, and have certain medical conditions, such as neurofibromatosis, Marfan syndrome, phenylketonuria (PKU), or who are over 34 years of age
· Couples who have experienced infertility, recurrent miscarriages, or a child born with a birth defect
· Individuals or couples in an ethnic or racial group with a high incidence of a specific genetic disease, such as Tay-Sachs in the Jewish population

For more information or to schedule an appointment, please call (903) 510-1173.