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Genetics and Metabolism

The clinical genetics service provides comprehensive inpatient and outpatient diagnostic evaluation, familial risk assessment, and management/surveillance for children with suspected genetic disorders. Common indications for genetic referral include:

  • Congenital anomalies/unusual appearance
  • Craniofacial anomalies such as cleft lip, palate, Pierre Robin sequence, craniosynostosis
  • Developmental delay, autism, intellectual disability, developmental regression/loss of milestones
  • Neurologic conditions including epilepsy, movement disorders, sensory deficits, neuropathies, strokes, structural brain anomalies
  • Hypotonia, weakness, unexplained muscular overgrowth or atrophy, rhabdomyolysis
  • Deafness or blindness in the absence of known environmental cause
  • Unusual small or large stature, brittle bones, or other anomalies of growth or skeletal development
  • Unusual skin lesions, birthmarks, pigmentary/other anomalies of the hair, teeth or nails
  • Congenital cardiac or blood vessel anomalies, arrhythmia concerns, connective tissue problems
  • Unusual cancers, cancers at young ages, high cancer burden
  • Immunodeficiency, radiation sensitivity
  • Precocious puberty, amenorrhea, ambiguous genitalia
  • Concern for an inborn error of metabolism (IEM)
  • Genetic risk on the basis of known family history of a genetic disorder

Specific treatment for genetic disorders is often a coordinated effort on behalf of multiple providers; typically the genetics team act as consultants.  Examples where treatment is directly arranged (inpatient, infusion center, or home health) by genetics include:

  • Enzyme replacement for metabolic storage disorders (Hunter, Hurler, Pompe, etc)
  • Bisphosphonates for osteogenesis imperfecta/low bone mass
  • Nusinersen/Spinraza for Spinal Muscular Atrophy (SMA)

Subspecialty/Multi-Disciplinary Clinics

Additionally, we engage with other subspecialists at regularly scheduled conferences to provide multi-Disciplinary care in the following areas:

  • Prenatal/Fetal Therapy
  • Neurogenetics
  • Cancer genetics

Our Team

(503) 413-4505