Genetics and Metabolism Programs
Biochemical Genetics Clinic
The Biochemical Genetics Clinic serves patients and their families who have suspected or known hereditary metabolic disease such as:
- Aminoacidopathies (Phenylketonuria [PKU])
- Organic acidemias (isovaleric aciduria [IVA])
- Defects of fatty acid metabolism (medium chain acyl dehydrogenase deficiency [MCADD])
The Biochemical Genetics Laboratory provides laboratory testing for inborn errors of metabolism. Consultation is available to health care professionals only.
The Developmental Genetics Clinic provides services for infants and children who have global developmental delays. Assessments are provided by specialists who work closely together to provide comprehensive and integrated evaluations.
UW Health's Comprehensive Pediatric Neurocutaneous Clinic provides a multidisciplinary service for the diagnosis, treatment and long-term care of children and young adults with a neurocutaneous syndrome.
General Genetics and Dysmorphology Clinic
The General Genetics and Dysmorphology Clinic provides evaluation, counseling and management of genetic disorders, birth defects and diagnosis of complex genetic processes such as:
- Chromosomal disorders (Down syndrome, 22 q deletion)
- Connective tissue disorders (Ehlers-Danlos syndrome, Marfan syndrome)
- Multiple congenital anomaly syndromes (CHARGE)
Lysosomal Storage Disorders and Infusion Clinic
The Lysosomal Storage Disorders and Infusion Clinic provides treatment for conditions including Fabry disease, Gaucher disease, Pompe disease and others.
Midwest Regional Bone Dysplasia Clinic
The Midwest Regional Bone Dysplasia Clinic provides comprehensive diagnostic, management and case coordination to individuals and their families where there is a known or suspected diagnosis of a bone growth disorder such as:
- Spondyloepiphyseal dysplasia
- Osteogenesis imperfecta
Genetic counselors are available to provide risk assessment and counseling services through several specialty services within the UW Health system including: