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Sep 18, 2025By Samira Reddy
Genetic testing might sound like something from a science lab, but for many families, it’s a real and essential tool in understanding a child’s health. Whether your child has unexplained symptoms, developmental delays, or a rare condition, your doctor may suggest genetic testing as a way to find answers.
But what exactly is genetic testing? Is it painful? Is it only for serious diseases? Will it tell you your child’s future? And what should you do with the results?
What Is Genetic Testing?
Genetic testing is a type of medical test that looks at a person’s DNA, basically, the instruction manual inside every cell of the body. These instructions help the body grow, develop, and function. Sometimes, small changes in DNA (called mutations or variants) can cause health problems.
In children, genetic testing can help:
- Find the cause of a developmental delay, seizure, or health condition
- Confirm a suspected diagnosis (like Down syndrome or Duchenne muscular dystrophy)
- Guide treatment or therapy choices
- Give families information about risks for future pregnancies
Genetic testing doesn’t give all the answers, but in many cases, it can provide a diagnosis that helps doctors better understand and support your child’s unique needs.
When Is Genetic Testing Recommended?
Doctors don’t recommend genetic testing for every child. It’s usually suggested when:
- A child has unusual features or medical symptoms that don’t have an explanation
- There’s a family history of a genetic condition
- A child isn’t meeting expected developmental milestones
- There are birth defects or multiple unexplained health issues
- A metabolic disorder, intellectual disability, or autism spectrum disorder is suspected
In some cases, testing is also done as part of newborn screening, a routine test done for all babies shortly after birth in many countries.
Types of Genetic Tests for Children
There are different types of genetic tests, depending on what the doctor is looking for:
1. Chromosomal Microarray (CMA):
Looks for large missing or extra pieces of DNA that can cause developmental problems.
2. Whole Exome Sequencing (WES):
Examines the “protein-coding” parts of the genes—useful when a child has complex, unexplained symptoms.
3. Targeted Gene Panel:
Tests a group of genes linked to a specific condition, like epilepsy or a muscle disorder.
4. Single Gene Test:
Used when the doctor strongly suspects one specific condition, such as cystic fibrosis.
5. Karyotyping:
Checks the number and structure of chromosomes. This test is used in conditions like Down syndrome.
Is It Safe? What’s Involved?
Yes, genetic testing is safe and non-invasive. It usually involves:
- A small blood sample or saliva sample
- Sometimes a cheek swab (buccal swab), especially in younger children
- In newborns, it can be done using a heel-prick blood spot
No anesthesia or hospitalization is needed. The sample is then sent to a specialized lab for analysis. Results may take anywhere from 2 weeks to 3 months, depending on the test.
What Can the Results Tell You?
Genetic test results usually fall into one of these categories:
1. Positive: A known mutation was found that explains your child’s symptoms.
2. Negative: No known genetic changes were found. This doesn’t always rule out a genetic condition, but it means no known cause was identified.
3. Variant of Uncertain Significance (VUS): A change in DNA was found, but scientists don’t yet know if it’s harmful or harmless.
A genetic counselor or pediatrician will help explain what the result means and how it may (or may not) affect your child’s care.
Does a Positive Test Mean the Future Is Fixed?
Not necessarily.
A positive result might give a diagnosis, but it doesn’t always predict how severe a condition will be, how fast it will progress, or what your child’s abilities will be in the future. Many genetic conditions have a wide range of outcomes, and a diagnosis is just one piece of the puzzle.
It’s also important to know that:
- A child can live a full, meaningful life even with a genetic condition
- Many therapies, supports, and educational plans can improve quality of life
- Knowing early often gives families the power to plan, prepare, and act
Will It Affect the Whole Family?
Yes, sometimes.
Some genetic conditions are inherited, meaning they run in families. If your child has a genetic mutation, parents, siblings, or future children may also carry the same variant. This is why doctors often suggest parent testing or genetic counseling after a child’s diagnosis.
Understanding inheritance can help:
- Prepare for future pregnancies
- Explain patterns in extended family health
- Make informed decisions about screening and care
What Should You Ask Your Doctor Before Testing?
It’s okay to have questions. Here are some good ones to start with:
- Why are you recommending this test?
- What are we hoping to find?
- What happens if we don’t find anything?
- Who will explain the results to us?
- Will it affect insurance or school planning?
- Will this test be repeated as the child grows?
If available, meeting with a genetic counselor can also help you understand the emotional, medical, and ethical side of testing.
Emotional Side of Testing: It’s Okay to Feel Overwhelmed
Waiting for results or getting a diagnosis can be stressful. Some parents feel relief, others feel fear or guilt. It’s important to remember:
- You didn’t cause your child’s condition
- Knowledge is a tool, not a verdict
- You are doing the best thing for your child by seeking answers
Support groups, mental health counseling, or speaking to other families who’ve gone through the same journey can be comforting during this time.
Conclusion
Genetic testing in children can feel complicated, but it’s ultimately a way to seek clarity, connect the dots, and plan with purpose. Whether you get a diagnosis or not, taking this step is an act of love and advocacy.
Ask questions. Take your time. And know that a diagnosis doesn’t define your child, your love, support, and guidance do.
References
- Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;370(25):2418–25.
- Reiff M et al. Parents’ perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. J Autism Dev Disord. 2015;45(10):3262–75.
- National Human Genome Research Institute. What is genetic testing? NIH.
- American Academy of Pediatrics. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131(3):620–622.
- Orphanet. Rare Diseases Information Portal for Families and Professionals.
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