Regional Genetics Consultation Clinics (RGCS)

General Genetics

The general genetics clinic provides diagnostic evaluation, testing, counseling, and ongoing management for patients with known or suspected genetic conditions. Common reasons to be seen in this clinic include birth defects, learning or behavior concerns, problems with growth, family history of known genetic conditions, or concerns about a specific genetic condition.

Connective Tissue Disorders Clinic

The connective tissue disorders clinic provides diagnostic evaluation, testing, counseling, and ongoing management for children and adults with disorders affecting structural connective tissues. These include disorders of the skin, ligaments, tendons, and blood vessels. An individual may be referred to this clinic for diagnosis or ongoing management of the following conditions (as examples): Classic or vascular Ehlers Danlos Syndrome, Marfan syndrome, Loeys-Dietz syndrome, or Thoracic aortic aneurysm disorder.

Neurofibromatosis Clinic

The Neurofibromatosis (NF) clinic is a nationally affiliated member of the NF Clinic Network through the Children’s Tumor Foundation. The clinic provides diagnosis and medical management to patients of all ages as well as access to a multidisciplinary care team. Primary conditions include neurofibromatosis types 1 and 2 (NF1 and NF2) and Schwannomatosis.

Metabolic Clinic

The metabolic genetics clinic provides diagnosis, education, medical treatment, management, and nutritional support for children and adults born with inherited disorders of metabolism. These conditions affect how the body makes or uses energy from foods. Common reasons for evaluation in this clinic include abnormal newborn screening, family history of a metabolic condition, poor growth or development, loss of skills, and unexplained changes to health status.

Cancer Predisposition Clinic

The cancer predisposition clinic provides diagnosis and management recommendations for adult and pediatric patients affected with or at-risk for genetic cancer predisposition syndromes. Common diagnoses include APC-associated polyposis syndrome, Beckwith-Wiedemann syndrome, PTEN-hamartoma tumor syndrome, ataxia telangiectasia, Birt-Hogg-Dube syndrome, von Hippel-Lindau syndrome (VHL), Juvenile Polyposis syndrome, SDH-related paraganglioma and pheochromocytoma syndromes to name a few. This clinic is nationally recognized by the VHL alliance.

Tuberous Sclerosis Complex Clinic

The multidisciplinary Tuberous Sclerosis Complex (TSC) clinic provides comprehensive care to patients with TSC. During a typical clinic visit, patients see a geneticist, genetic counselor, pediatric neurologist, and pediatric nephrologist.

Lysosomal Storage Disease Clinic

The Lysosomal Disorders program evaluates children and adults with suspected or known lysosomal disorders such as Fabry Disease, Gaucher Disease, metachromatic leukodystrophy, mucopolysaccharidoses, and Niemann-Pick disease. These multisystem disorders may be diagnosed early in life (including via newborn screening) or much later in adulthood. In addition to offering regular clinical care (including management of enzyme replacement and other therapeutic options), the program participates in several clinical trials offering novel experimental therapies, including gene therapies, for these disorders.