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Diagnosis & Treatment


Today there are more than 1,000 genetic disorders for which testing can be performed. We provide the most current and comprehensive testing capabilities, including:

  • Prenatal testing including maternal serum screening, fetal ultrasound, amniocentesis and chorionic villus sampling (provided at MMP Women’s Health-Maternal Fetal Medicine)
  • Newborn screening
  • Cytogenetic testing (chromosome studies) which looks at the number or shape of chromosomes
  • Fluorescence in situ hybridization (FISH) testing which is used to detect common chromosome problems caused by an extra chromosome, such as Down syndrome
  • Biochemical testing which measures the level of protein or enzyme present to help determine if the gene that produces that protein is functioning properly
  • DNA testing is performed when scientists know exactly where a gene is located on a chromosome and what changes in the gene cause a specific disease


Treatment for genetic disease is highly individualized. Our team provides and/or coordinates an extensive range of services tailored to the unique needs of each patient and family, including:

  • Ongoing management of complex medical care for individuals with known diagnoses
  • Drug treatment
  • Genetic counseling
  • Management of inborn errors of metabolism including enzyme replacement therapy for lysosomal storage diseases
  • Bone marrow stem cell transplantation
  • Referral to the numerous other pediatric medical and surgical subspecialty services available at The Barbara Bush Children’s Hospital, as well as access to family support resources
  • When there is no effective cure or treatment for a genetic disorder, we provide supportive care for patients and their families in coordination with their local healthcare providers

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