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Molecular Genetics
The Division of Clinical Genetics provides clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions. We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary care for patients, and help patients access resources related to their condition. When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options. For patients planning their families, we provide reproductive options for having healthy children. We have specialized programs in several areas listed below.
Prenatal genetics
Non-invasive integrated screening for Down syndrome
Carrier screening for common genetic conditions such as sickle cell disease,
Tay Sachs disease, and cystic fibrosis
Pre-conception counseling
Prenatal diagnosis of genetic conditions
Chorionic villus sampling
Amniocentesis
Counseling for complex fetal chromosomal abnormalities
Prenatal pediatric care coordination for fetuses with birth defects or
known genetic conditions
Preimplantation genetic diagnostic program for genetic conditions
Pediatric genetics
Dysmorphology
Birth defects
Growth problems
Delay in development
Chromosomal disorders (Down syndrome, Klinefelter syndrome, Turner syndrome)
Cystic fibrosis
Sickle cell disease and thalassemia
Craniofacial disorders
Marfan syndrome
Neurofibromatosis
Tuberous sclerosis
Di George syndrome
Fragile X
Osteogenesis imperfecta
Inherited skin (dermatological) disorders
Inherited liver disorders
Endocrine genetics including specialized programs in diabetes and obesity
Metabolic disorders
Muscular dystrophy
Mitochondrial disorders
Spinal muscular atrophy
Seizures
Deafness
Cardiomyopathies
Congenital heart disease
Inherited arrhythmias and long QT syndrome
Adult risk assessment
Cancer including breast, ovarian, colon, renal (kidney) cancer, and melanoma
Von Hippel Lindau Disease
Cardiomyopathy
Inherited arrhythmias and long QT syndrome
Huntington disease, muscular dystrophy, amyotrophic lateral sclerosis,
myotonic dystrophy
Dementia
Diabetes
Hemochromatosis
Clinical genetics
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