Pediatric Genetic Evaluation and Genetic Counseling
Pediatric Genetic Evaluation and Genetic CounselingIf you have a child with physical or developmental differences, or you are worried that a genetic condition in the family may affect your child, it's only natural to feel concerned.
We understand these feelings, and we also know that evaluating these conditions may lead to answers that may reduce the fear of the unknown and alleviate guilt surrounding the condition.
These evaluations may lead to diagnoses that:
- Provide specific inforrmation and resources that help with future educational plans
- Raise family awareness and encourage appropriate medical management
- Help guide families to support organizations, research, and resources
- Define recurrence risks for parents and other family members
Most children are referred for pediatric genetic evaluation and genetic counseling by pediatricians or other physician specialties. Reasons for referral may include:
- Developmental delays or autism
- Specific birth defects or changes in the way the body has formed
- Multiple joint dislocations
- Growth abnormalities
- Abnormal findings on newborn screening
- Substantial hearing or vision loss
- Family history of conditions that may affect a child
As always, talk with your primary care provider about what is best for your child, but if you would like a referral to Fullerton Genetics Center for pediatric genetic counseling you can fill out a referral form here.
Once your child has been referred for a genetic evaluation, our clinical geneticists and genetic counselors work closely with you and your child, explaining the process in clear, simple terms.
Preparing for your visit
Collecting information about your family history is important prior to your visit. We advise gathering information about siblings, parents, and extended family history and medical problems. Family photos, particularly of siblings and parents at a young age, are especially helpful.
What to expect during your visit
One of our counselors will ask many questions during this visit - including ones mentioned in Preparing for your visit. We will also ask about ancestry, pregnancy and birth history and developmental milestones. The geneticist then reviews the information and performs a physical exam.
At the end of the visit our physicians will summarize their findings and recommendations. If your physician recommends laboratory testing (which is typically done through blood or urine) it can often be done at the time of the visit.
If a diagnosis is made, we will discuss the condition, explain what to expect, provide additional evaluations, and point you to resources. All results are shared with family and referring physicians.
Sometimes a diagnosis requires more testing or follow up to confirm diagnoses as children grow - we often follow children for many years.
If you would like more information on pediatric genetic counseling at Fullerton Genetics Center call us at 828-213-0022, or use our online contact form.