Pediatric Movement Disorders - Diagnostic Methods

Genetic Tests

As the genetic causes are discovered for more diseases, genetic testing becomes increasingly important. Although many genetic diseases are not curable, accurate diagnosis means that other tests are not necessary. Genetic testing may therefore reduce the need for the child to undergo further diagnostic procedures. Accurate diagnosis also helps to determine the future course of the disease and select appropriate medications.

Knowledge of inheritance patterns for certain diseases is important in family counseling. In this way, appropriate decisions may be made regarding family planning and also investigation of other family members. The diagnosis of a genetic disease may have psychological and social impacts; therefore, it is often necessary to complete special consent forms before these tests are ordered. In addition, it is important that genetic counselors be available to explain the significance of the test results to family members and caregivers.