Medical Genetics Treatments and Services

The Medical Genetics Department evaluates and treats children and adults with a wide range of genetic conditions. Our goal is to provide information about treatment and long-term outcomes for patients diagnosed with common as well as rare genetic conditions.

The genetics team will often use special tests to help diagnose a medical condition. Our genetic specialists will work with you to determine the appropriate test. The results of genetic tests are not always straightforward, but our physicians and genetic counselors use their expertise and experience to explain the results in the most comprehensive and approachable way possible.

Tests may include:

  • Chromosome analysis or microarray testing
  • Fragile X testing
  • Single gene or multiple gene panels
  • Whole exome sequencing
  • Imaging such as a CT scan, MRI, X-ray, or ultrasound

Conditions we evaluate

We provide evaluation and treatment for a wide range of conditions, including:

  • Autism spectrum disorders
  • Beckwith-Wiedemann Syndrome/Hemihyperplasia
  • Birth defects
  • Chromosome disorders
  • Connective tissue disorders
  • Developmental delays
  • Fetal alcohol syndrome
  • Genetic skin disorders
  • Intellectual disabilities
  • Multiple café au lait spots/neurofibromatosis
  • Muscle disorders
  • Rare genetic disorders
  • Skeletal dysplasias

Related programs

We work closely with the following programs:

  • Genetic Counseling Clinic: Our genetic counselors within our counseling clinic provide information and support to families with members with genetic disorders, or families who may be at risk for inherited conditions.
  • Reproductive Genetics Program: The specialists in the Reproductive Genetics Program help couples navigate concerns about current or future pregnancies. The program is also available to patients whose pregnancy team has recommended a consultation.
  • Neurometabolism Program: The Neurometabolism Program provides patients with specialists and dietitians who have expertise in metabolic or mitichondrial disorders.
  • Familial Cancer Program: Specialists in the Familial Cancer Program support families with a history of cancer, or those with a child who has been diagnosed with cancer.