Genetic Counseling and Testing Center

Evaluations for genetic disorders are conducted by a medical geneticist and a genetic counselor for children and adults with:

• Autism
• Birth defects
• Hearing loss
• Inborn errors of metabolism
• Mental retardation

Our division also offers prenatal consultations and coordinates prenatal testing of chromosomal and inherited disorders. Patients may also be referred to us for:

• Abnormal fetal ultrasounds
• Abnormal maternal screening
• Family history of known or suspected chromosomal or inherited disorders
• Genetic counseling prior to prenatal diagnostic testing, such as chorionic villus sampling and amniocentesis
• Recurrent miscarriages
• Teratogen exposure

Genetic consultation and testing for susceptibility to breast and ovarian cancer and colon cancer are also offered through the Division of Medical Genetics.

All women who are pregnant or who are contemplating pregnancy should consider carrier testing for genetic disorders including:

• Fragile X syndrome - the most common cause of inherited mental retardation
• Cystic fibrosis - a chronic disease that affects the lungs and digestive system
• Spinal muscular atrophy - a genetic disease that affects the part of the nervous system that controls voluntary muscle movement

Certain inherited diseases occur more frequently in specific ethnic or racial groups. Individuals of African-American, Hispanic or Mediterranean descent are more susceptible to:

• Sickle cell anemia - a disease passed down through families in which red blood cells form an abnormal crescent shape
• Thalassemia - a disease that makes an abnormal form of hemoglobin resulting in excessive destruction of red blood cells and anemia

Individuals of Ashkenazi Jewish descent may be more susceptible to:

• Fanconi anemia - a chronic disease in which children have short stature, birth defects, bone marrow failure and an increased risk of leukemia
• Tay-Sachs disease - a progressive degenerative neurologic disease that usually results in death by the age of 4-5 years
• Canavan disease - a severe neurodegenerative disease that causes seizures, an enlarged head and increased muscle tone  
• Niemann-Pick disease (Type A) - another severe progressive neurologic disease of infancy that causes loss of neurologic function and enlargement of the liver and spleen
• Bloom syndrome - characterized by frequent infections, poor growth and learning disabilities with a predisposition to develop common cancers
• Mucolipidosis type IV - a lysosomal storage disease that affects the brain and nervous system
• Gaucher disease - an inherited enzyme with effective treatment available through the Lysosomal storage disease program
• Familial dysautonomia - characterized by failure to thrive, insensitivity to pain, blood pressure instability and frequent episodes of pneumonia
• Dihydrolipoamide dehydrogenase deficiency - recurrent episodes of vomiting and abdominal pain
• Familial hyperinsulinism - low blood sugar ranging from mild to severe  
• Glycogen storage disease type 1a - a metabolic disorder that, if untreated, results in severe low blood sugar, enlarged liver, growth retardation and bleeding disorders
• Maple syrup urine disease - a metabolic disorder that affects how certain proteins in the body called amino acids are metabolized
• Nemaline myopathy - a neurologic disorder characterized by weakness and poor muscle tone usually in the neck, face and upper portions of the limbs  
• Usher syndrome type III - hearing and vision problems that progressively worsen
• Usher syndrome type IF - profound deafness at birth, severe balance problems, as well as vision impairment