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Geisinger becomes the first member of Risant Health

Medical genetics

Genetic factors play a major role in causing developmental disabilities. Determining the cause of a child’s disability can help parents and family members to better understand why it occurred and the chances that it may happen again in future generations.

What you should know about medical genetics at ADMI:

Genetic factors play a major role in causing developmental disabilities. Down syndrome is widely recognized, yet there are hundreds of lesser-known genetic conditions that can cause a wide array of intellectual and behavioral symptoms. Determining the cause of a child’s disability can help parents and family members to better understand why it occurred and the chances that it may happen again in future generations. A diagnosis may also enable families, providers, and educators to access syndrome-specific interventions relevant to a child’s unique needs.

The comprehensive evaluation of children with special developmental needs often includes genetic and other medical testing aimed at identifying, whenever possible, the underlying causes for their developmental symptoms.

At ADMI, our licensed genetic counselors work with the medical team to offer cutting-edge genetic testing for your child, if appropriate. We specialize in interpreting the impact of genetic test results and discussing this information with you so that you understand what genetic test results mean for your child and family. We also provide trusted resources related to genetic testing and results.

ADMI is focused on the diagnosis & management of neurodevelopmental disorders. 

Increasingly, knowing the underlying reason for a child’s developmental symptoms can impact their care. We are focused on helping those with neurodevelopmental disorders, including:

  • Global developmental delay
  • Intellectual disability
  • Autism spectrum disorders
  • Cerebral palsy
  • Genetic diagnoses that result in developmental symptoms
  • And more

More about genetic testing:

  • Almost 3 out of 100 people (3%) are diagnosed with developmental delay or intellectual disability, and about 1 in 68 people is diagnosed with Autism Spectrum Disorder (ASD). Since these neurodevelopmental conditions are common, there has been a great deal of interest in finding their underlying causes and better ways to treat them. Therefore, a neurodevelopmental evaluation often includes genetic testing, which attempts to pinpoint the cause of a person’s symptoms. 
  • There are many different genetic tests, and our expert team will choose the best type of test based on the patient’s symptoms. All genetic tests attempt to find changes or errors in a person’s DNA, which is our body’s recipe for making us grow and develop. An error in that recipe can affect the way a person's body functions, and in some cases, results in a genetic disorder. 
  • One of the biggest benefits to genetic testing is that it can identify the specific cause of a person’s symptoms, which may then help us provide better care and treatment for a patient. Finding a genetic cause can also help us to provide a family with information about the chances that a certain genetic condition may happen again in future generations, and can identify other family members who should be offered genetic testing.
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