Genetic testing is used to discover abnormalities, mutations and genetic differences in DNA. The results are used to make an accurate diagnosis and prognosis, as well as develop focused treatment plans for those with pediatric epilepsy. The process of genetic testing is complex and typically requires more than one test. The results from testing can save both time and money for the patient’s family.
Who are Appropriate Candidates for Genetic Testing?
Not every child will require genetic testing. The Cleveland Clinic suggests it may be prudent to test children if they fall into any of these categories, as it increases their risks for problems in both childhood and adulthood:
Developmental delays or learning disorders
Unusual physical features
Abnormal genetic test results
Known or suspected genetic condition
Family history of genetic condition
Family history of seizures, in particular
If you feel your child may need genetic testing, consult with your child’s primary care physician about a referral. If the physician concurs, then a team of neurologists and geneticists should see the child to order the testing and interpret the results.
The results of the genetic test can be considered in creating the child’s treatment plan. In fact, genetic testing can relieve a family’s stress and anxiety, eliminate other causes of the seizures (and therefore other tests), save precious time and allow for a more targeted approach to treatment.
Why is Genetic Counseling Needed Prior to Genetic Testing?
Prior to testing, the family will need to visit the office for genetic counseling where any questions can be answered. Most genetic counselors follow similar guidelines for pediatric epileptic patients:
Diagnosis of a genetic condition is made from medical and health records, including family medical records and genetic testing
Review of any abnormal genetic testing results
Educate the family about the child’s specific type of epilepsy
Discuss any future risks
Recommendations for any family members who are at risk
In addition, the geneticists will ask the following questions, as the answers may have bearing on the results:
Have any children died young in the family, particularly from seizures?
Do any family members have epilepsy?
Have any adult family members died from epilepsy or seizures?
The child’s ancestry will be examined to see if the child may have genetic markers predisposing them to certain conditions. Knowing what conditions the child is more likely to develop will help the neurologists and geneticists to focus an appropriate treatment plan.
Genetic testing is expensive and not all insurance plans cover it. Be sure to check with your insurance provider before scheduling an appointment with a geneticist.
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