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Genetics

The Barbara Bush Children’s Hospital Genetics Division provides genetic testing, diagnosis and counseling to newborns, children and adults with a known or suspected inherited disease, as well as coordination of care for children with congenital birth defects and metabolic disorders. With board-certified Clinical Geneticists, board-certified master’s level genetic counselors and specialized nursing support, ours is the largest and most full-service program of its kind in northern New England.

Our involvement in genetics research helps to keep our treatment capabilities on the cutting edge and gives patients and families access to the most advanced knowledge about these conditions. We also have ongoing clinical trials, and we are involved in a quality improvement project evaluating children with developmental delays, a regional pilot program in collaboration with the American College of Medical Genetics.

Conditions

The Barbara Bush Children’s Hospital Genetics Division sees the full range of both common and rare inherited conditions and disorders, including:

  • Cystic fibrosis
  • Down syndrome (Trisomy 21)
  • Skeletal dysplasias
  • Fragile X syndrome
  • Hemophilia
  • Jewish heritage disorders
  • Klinefelter syndrome
  • Lysosomal storage diseases
  • Marfan syndrome
  • Triple X syndrome
  • Trisomy 13
  • Trisomy 18
  • Turner syndrome
  • Chromosome abnormalities
  • Birth defects
  • Developmental delays

Contact Us

The Barbara Bush Children's Hospital is a department of Maine Medical Center