Conditions and Treatments
Through diagnosis, counseling, care coordination and referral, specialists in genetics at UW Health help individuals and their families to understand and cope with genetic conditions, birth defects and other disorders.
Conditions
- Achondroplasia
- Cystic Fibrosis
- Down Syndrome
- Ehlers-Danlos Syndrome
- Gaucher Disease
- Marfan Syndrome
- Osteogenesis Imperfecta
- Phenylketonuria (PKU) and other aminoacidopathies
- Prader-Willi Syndrome
Additional Conditions
- Bone dysplasia (disorders of bone growth)
- Clefting
- Organic acidemias
- Sensory deficits (deafness and blindness)
Programs
Treatments and Services
- Cancer genetics
- Consultation and genetic counseling
- Consultation for familial cancer syndromes
- Diagnosis and detection of genetic disorders and diseases in infants, children and adults
- Diagnosis and management of skeletal dysplasia (bone growth disorders
- Evaluation of birth defects and follow-up of newborn screening
- Evaluation and testing for biochemical disorders (inborn errors of metabolism)
- Pregnancy-related consultation

