Genetics and Inherited Metabolic Diseases

Children's Hospital Colorado's Clinical Genetics and Inherited Metabolic Diseases Program provides diagnosis and genetic counseling for children with known or suspected inherited diseases. We evaluate, diagnose and help treat children and families affected by sporadic and inherited genetic disorders, birth defects, or developmental delays.

Clinical services and programs

• Clinics:
  • Genetic Diagnosis and Counseling
  • Neurofibromatosis, Sturge Weber and Tuberous Sclerosis
  • Neuromuscular Disorders
• An extensive schedule of regional clinics across Colorado and Wyoming
• In-patient consultations for critically ill infants on-site at metro Denver hospitals
• Research leading to early detection and improved management of genetic disorders and predispositions
• Consultation, diagnosis and treatment recommendations
• Family counseling
• Comprehensive prenatal genetic screens and diagnostic tests through the Colorado Fetal Care Center
• Information available for health professionals, families, patients and others regarding genetic disorders
• Laboratory services including biochemical genetics, cytogenetics, molecular genetics