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Genetics

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Medical Genetics Clinic

Consultation, Diagnosis, Genetic Testing and Treatment

The Medical Genetics Clinic provides specialty consultations for diagnosis and treatment of suspected inherited conditions or syndromes. Patients are seen by doctors who are Board Certified Medical Geneticists and by Certified Genetic Counselors. Patients referred to Medical Genetics at DHMC can expect to:

  1. Understand a specific genetic diagnosis or cause of their medical problems;

  2. Learn about treatments or preventive measures that help with the medical symptoms;

  3. Understand the genetic cause of the medical problem or syndrome;

  4. Have help coordinating other specialty care consultations or treatment;

  5. Find available sources of peer or family support.

Examples of conditions for the Medical Genetics Clinic include:

  • Congenital structural malformations such as cleft lip or palate, spina bifida, congenital heart malformations.

  • Developmental disabilities such as congenital deafness, autism and pervasive developmental disorder, mental retardation.

  • Dysmorphology and syndrome diagnosis for those with congenital malformations.

  • Connective tissue disorders such as Marfan syndrome, Ehlers-Danlos syndrome and Osteogenesis Imperfecta.

  • Positional plagiocephaly or craniosynostosis.

  • Neurogenetic conditions such as Fragile-X syndrome, Neurofibromatosis, Huntington Disease, Alzheimer’s disease.

  • Hemochromatosis

  • Coagulation disorders

  • Familial Cancer Syndromes

Program Staff:

The Medical Genetics Clinic is a multidisciplinary team of health professionals directed by:

John Moeschler, M.D., a Board Certified Medical Geneticist, Director of the Medical Genetics Program

Mary Beth Dinulos, M.D., a Board Certified Medical Geneticist

In consultation with Drs. Moeschler and Dinulos, counseling is provided by:

Jillian Ozmore, M.S., a Board Certified Genetic Counselor

Sheila Upton, M.G.C., a Board Certified Genetic Counselor

Stephanie E. Vallee, C.G.C., M.S., a Board Certified Genetic Counselor

For appointments or further information

You can contact the Medical Genetics Clinic by calling: (603) 653-6044.