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Birth defects
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Dysmorphic syndromes
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Chromosomal and genetic syndromes
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Inborn errors of metabolism
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Developmental delay/mental retardation
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Growth disorders
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Inherited conditions of any type
Diagnostic services utilize on-site cytogenetics and metabolic laboratories that provide state-of-the-art testing, including:
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Metaphase karyotype analysis
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FISH studies (to diagnose DiGeorge and Prader-Willi syndrome, among others)
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Subtelomeric FISH studies
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Amino acid and organic acid testing
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Carnitine and acylcarnitine analysis
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Methylmalonic acid quantitation
For more information or to make an appointment:
Genetic Service - (617) 636-5462
Metabolism Service - (617) 636-5454
Fax - (617) 636-0745
Address - 800 Washington Street, Boston, MA 02111
SUPPORTING THE MISSIONS OF THE
GENETIC AND METABOLISM SERVICES
The missions of the Division of Genetics and Metabolism are clinical care, education, and research. We provide compassionate, coordinated care for children and adults with genetic and metabolic disorders. We offer subspecialty training in genetics and metabolism, and educational opportunities for medical students and residents. We have also launched innovative genetic and metabolic outreach educational programs.
Our established funds include:
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The Family Center for Genetic Medicine
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The Victor Outreach and Screening Program for Jewish Genetic Diseases (Genetics)
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The Help Us Help You Fund (Metabolism)
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Metabolic Outreach Service (Metabolism)
If you would like to support our missions and make a gift to our program, please: