Genetics

We specialize in pediatric genetics such as:

• Birth defects

• Syndromes

• Growth problems

• Intellectual disability

• Lysosomal storage diseases

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We specialize in genetics for adults such as:

• Neuromuscular diseases

• Syndrome diagnosis and management

• Intellectual disability

• Lysosomal storage diseases

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We specialize in reproductive genetics such as:

• Preconception genetic counseling, carrier testing

• Family history, ethnicity based risk assessment

• Advanced maternal age

• Ultrasound abnormalities

• Prenatal Testing

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We specialize in genetics for hereditary cancer:

• Personal history of cancer

• Family history of cancer

• Risk assessment

• Genetic Testing

• Surveillance options

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In addition to our regular clinical services, we collaborate with Dr. Wendy Smith of Maine Medical Partners Genetics in Portland to offer clinic for metabolic disorders which provides comprehensive metabolic dietitian, genetic counseling, medical management, and family support for individuals with inborn errors of metabolism.

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