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Medical Genetics

Our medical genetics team is made up of geneticists and genetic counselors who offer up-to-date testing, diagnosis and recurrence risk counseling to both pediatric and adult patients seeking care. Our goal is to try to help you and your family discover the underlying genetic cause of a condition, provide risk assessments for other family members, provide support and resources and discuss medical management options.

Care For Your Child

We offer evaluation, genetic counseling and testing options to patients who have a personal or family history of specific health or developmental issues that may be caused by an underlying genetic condition. Our team attempts to determine the cause of birth defects, developmental delays, autism spectrum disorders, complex medical histories and uncommon combinations of physical features.

Care For Adults

Some individuals have changes to their genes that may cause them to have, or be at risk for, certain health concerns such as birth differences, heart disease, inborn errors of metabolism or development delays. Our geneticists and genetic counselors can evaluate your medical and family histories, discuss appropriate genetic testing options, determine risks to other family members, provide support and resources and discuss medical management. We also offer preconception consultations to discuss the chances of having a baby with certain genetic issues.

 


Laurie H. Seaver, MD, discusses the role of a medical geneticist and why one might seek genetic counseling.


Health Beat

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    She’s one of a kind

    Groundbreaking research unravels a mysterious genetic mutation affecting little Marley Berthoud. And offers hope for her future.

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    You’re one in a billion, baby boy

    Little Hayden, born with two rare disorders, might be the first of his kind. His parents treasure his uniqueness.