Childen's Hospital Boston 300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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Clinical Services:
Genetics Program
Image The General Genetics component of the Children's Clinical Genetics Program provides diagnosis and genetic counseling for pregnant women, newborns and children with known or suspected inherited diseases, especially congenital malformations and chromosomal disorders. Each year, we perform more than 2600 outpatient evaluations, making Children's Clinical Genetics Program one of the largest pediatric genetics programs in the country. Although the General Genetics Program provides care for all pediatric genetic conditions, some of the conditions for which we more frequently provide diagnostic and counseling services are listed under Related Topics in the upper right corner of this page.

The General Genetics Program provides and/or arranges for a broad range of services including:

  • Consultation regarding single or multiple birth defects: for possible syndrome identification
  • Standard chromosomal studies
  • FISH analysis, including subtelomeric FISH assay
  • Biochemical Genetic Testing
  • Genetic Molecular Analysis: conducting specific mutation analyses when indicated, with a molecular genetics laboratory facility available on site for certain conditions.
  • Testing for metabolic conditions: screening for the more common metabolic conditions when findings indicate, with subsequent referral to the Metabolism Program if results warrant.
  • Counseling: for parents and future parents, and any appropriate extended family members, to assess all aspects of genetically determined conditions, including the chance of their child(ren) being affected, and methods of diagnosis for such conditions.
  • Prenatal Diagnostic Options: reviewing risks, benefits and limitations of various procedures, with assistance in arranging for any option(s) chosen.
  • Specialty Referral: consultation with the patient's primary care provider regarding the referral of patients with genetic conditions to the specialty services needed.
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Related topics:
Achondroplasia
Alpha Thalassemia
Amniocentesis
see entire list
Image Taking a closer look at the family tree Fifteen-day-old Stacy Peace whimpers softly as the nurse tends to her. She is recovering from heart surgery to correct a congenital narrowing in her aorta, the major vessel leaving her heart. She's not yet seen her home, 12 hours north in Maine, a stone's throw from the Canadian border.
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