Referral required from primary physician. Open to individuals of all ages with a wide range of genetic conditions.

Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. 

Services Include:

• Metabolic clinic
• Lysosomal storage disorders clinic
• Fetal alcohol syndrome
• Newborn screening counseling & education
• Pediatric general evaluation
  • Disorders of growth
  • Neurocognitive impairment including autism
  • Birth defects
  • Distinctive facial features
  • Hearing impairment (in conjunction with otolaryngology)

Conditions and Treatments:

• Neurofibromatosis (NF1 & NF2)
• Prader-Willi Syndrome
• Marfan syndrome
• Down syndrome
• Chromosome 22q11
• Deletion syndrome
• Turner syndrome
• Chromosome abnormalities