Genetic services: when, where, how

When does a child need genetic services?

There are many features that can be present in a child which would indicate a referral is needed for genetic services. The following is a general (partial) checklist of characteristics that may indicate a child has a genetic defect. When two or more items are found, there may be a need for a genetic evaluation of the child, with or without specialized genetic testing. Each child needs to be evaluated on an individual basis since some of these features, when isolated, are found in the general population and are not associated with a genetic disease. Symptoms of genetic diseases may resemble other conditions or medical problems. Always consult your physician for a diagnosis and a complete list of characteristics.

Where to find genetic services

Genetic services are usually available in large hospitals or medical centers. The local phone book or physician directory may help you identify a genetic service provider in your area. Consult your physician for more information.

How genetic services can help

Genetic services can provide the following:

• Information about your family history and any genetic risk factors
• The diagnosis of a genetic disorder by physical examination and/or genetic laboratory testing
• How/why a disorder occurred (in most cases)
• The chance for the disorder to reoccur in the family
• The chance for other family members to have the disorder or pass it on
• The management and treatment of the disorder
• Support groups for the disorder
• Connections to other families who have a child with a similar/same disorder