Pediatric Neurology Genetic Counseling

Genetic counseling may be recommended for:

• Developmental delays
• Autism spectrum disorder
• Intellectual disabilities
• Movement disorders
• Cerebral palsy
• Muscle and nerve disorders
• Seizures and epilepsy
• Structural brain abnormalities
• A family history of any of the above

When you ask for a referral to a genetic counselor, that doesn’t mean your child will receive a genetic test. Your genetic counselor reviews your child’s health and family history to help you decide whether testing is necessary and to determine what, if any, testing is right for your child.

Common genetic tests include:

• Chromosome analysis—This test looks at the number and arrangement of a person’s chromosomes. We expect most people to have 46 total chromosomes. Having more or less can cause differences in a person’s health and development.
• Chromosome microarray—This test looks for missing or extra pieces of genetic information called deletions and duplications. Not all deletions and duplications cause health problems, but some can cause differences in neurodevelopment.
• Targeted gene panel—This test looks very closely for small genetic differences in a specific set of genes. A genetic counselor can choose which genes to look at based on a patient’s symptoms.
• Whole exome sequencing—This test looks very closely for small genetic differences in nearly all 20,000 genes. This test is typically recommended for people who have not received a diagnoses with more targeted testing.