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Clinical Services

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  • Medical Genetics Clinic - The Genetics Clinic provides diagnostic evaluations and genetic counseling for patients and families with birth defects, dysmorphology, developmental, physical, and intellectual disabilities, chromosomal disorders, teratogenic exposures, ophthalmologic disorders, endocrine disorders, renal disease, hearing loss, musculoskeletal/connective tissue disorders, epilepsy, craniofacial malformations, skeletal dysplasias, Huntington disease, and other hereditary disorders. We also provide pre-conception genetic counseling services for individuals with a personal or family history of genetic disorders.
  • Metabolic Clinic - The Metabolic Clinic offers prompt diagnosis and treatment for infants, children, and adults with hereditary metabolic or biochemical disorders and mitochondrial disorders. We offer our patients access to clinical trials for new therapies for inborn errors of metabolism. We are also a designated service area for the California Newborn Screening program for metabolic disorders. The clinic is staffed by a biochemical geneticist, nurse, and dietician.
  • Specialty clinics – We offer Genetics services within the following specialty clinics:
    • Autism clinic
    • The Care and Research in Neurogenetics (CARING) clinic
    • 22q11.2 deletion and duplication syndromes clinic
    • Craniofacial clinic
    • Pediatric cancer predisposition (PCPD) clinic
    • Pediatric Marfan syndrome clinic
    • ASXL clinic
    • Disorders of Sexual Development (DSD) clinic
    • Immunology clinic
    • Neuromuscular/Duchenne Muscular Dystrophy clinic
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