Pediatric Medical Genetics

Pediatric medical genetics is health care that focuses on genetic conditions in children of all ages. Genes contain the biologic instructions for life. They contribute to our traits and aspects of our health. Everyone has a unique genetic code. It is this genetic variation that makes us an individual. Genetic variation can be neutral, beneficial or detrimental and arises from a number of different mechanisms, including variants that occur in the formation of the reproductive cells. These variations can lead to diversity of a population, the emergence of new traits, which may improve function, health and survival or a disruption of normal function and increased susceptibility to disease. A child randomly inherits half their genes from each of their parents, and most children grow up healthy. But our children can inherit an unfavorable combination of these variants or possess new mutations that result in the child having physical differences like birth defects, medical conditions, learning disabilities, behavior problems or features that other family members might also possess. A Genome Medical clinical geneticist or certified genetic counselor can help you learn if your child has a genetic condition, which may include genetic testing. If your child has a genetic diagnosis, pediatric medical genetics specialists can give you medical recommendations to make informed decisions about your child's wellness.


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births results in a complication
involving a genetic condition.

Is a Genetic Evaluation
Right for My Child?

If your child could have a genetic disorder, your child’s doctor may refer him or her for a genetic evaluation. Common reasons for referral include: birth defects, disorders of growth, neurobehavioral disabilities and/or non-familial physical features. This usually involves seeing a clinical (medical) geneticist and/or genetic counselor. You might also ask for or seek these services on your own for your child. The team at Genome Medical is skilled in providing medical care to children and adults for a variety of genetic conditions.

Schedule your sessionChat with us
With qualified insurance
the cost for a genetic counseling appointment may be as low as $50 if the consultation is a covered service under your plan. Learn More

A pediatric genetic evaluation can better help
you care for your child in the following ways:

Understanding your child’s symptoms or diagnosis can alert you to other medical care your child may need, now or in the future
Learning your child’s symptoms or diagnosis can help you work with your child’s school or local government agencies to get resources for your child
Knowing your child’s symptoms or diagnosis can connect you to support, such as other families in similar situations or advocacy groups
Understanding your child’s symptoms or diagnosis can help you learn about genetic risks to others in the family, including other children you may have

What to expect from a
pediatric genetic evaluation:

The team will review your child’s health history and your family history. They will look at all this information for clues of a genetic disorder.

A medical geneticist may need to examine your child. This includes a standard medical evaluation, like listening to the heart and lungs or measuring height and weight, but might also include searching for rare or unusual physical differences that are associated with a specific diagnosis.

The team will review everything with you, including whether your child may have features of an underlying genetic diagnosis. If genetic testing is available, they will review that with you and help you with making an informed decision about whether this is right for your child. The team will help coordinate genetic testing, including sorting out if it will be covered by insurance.

Once the test results are back, a genetic counselor will interpret and review them with you. The team will make medical recommendations and partner with you and your child’s regular doctor for long-term care, including available treatment or referrals to other specialists.

Medical geneticists and genetic counselors know that most genetic disorders are lifelong—they are used to seeing children and adults with these disorders. In fact, medical geneticists may have a combined pediatrics training, which blends it with another field, such as internal medicine. All recommendations you receive will be tailored to your family’s situation, and may also be relevant to your family members.

Pediatric Genetics Near Me

With Genome Medical, you can simply schedule your pediatric genetics consultation online and attend from the comfort of your own home. Arrangements or referrals can be made if a physical examination is needed. Secure video sessions are flexible and available to suit your schedule.

Schedule your sessionChat with us
With qualified insurance
the cost for a genetic counseling appointment may be as low as $50 if the consultation is a covered service under your plan. Learn More
Ready to learn more?
Pediatric genetic diseases can affect children of all ages, from babies found to have a genetic diagnosis through newborn screening to young adults that show signs and symptoms for the first time.

Genetic evaluations, including pediatric genetic testing and genetic counseling, are available to individuals of all age ranges.

After the initial consultation with the Genome Medical clinical team, a genetic counselor may offer specialized genetic tests for your child. The goal is to determine if a genetic explanation for their health issues is present so that your child’s care can be tailored to their needs. Here are common genetic disorders that children are tested for:

  • Chromosome abnormalities, such as Down syndrome
  • Fragile X syndrome, an inherited form of intellectual disability
  • Cystic fibrosis, an inherited lung and digestive condition
  • Inherited blood disorders, such as sickle-cell anemia and thalassemia
  • Muscular dystrophy, different inherited muscle diseases
  • Phenylketonuria (PKU), an inherited disease of the metabolism

When it comes to pediatric genetic testing, one size does not fit all.

As part of a genetic evaluation, a certified genetic counselor from Genome Medical will walk you through appropriate genetic testing to consider, including all testing limitations. After test results are back, they will carefully review them with you.

Trusted Pediatric Genetic Specialists

Our clinical team is comprised of more than 50 clinicians, including medical geneticists, genetic counselors, primary care doctors and pharmacists who can provide medical services in all 50 states through our telehealth platform.

Meet the Team
Chief Medical Officer
Steven B. Bleyl


Pediatric Lead
Alan Rope


Cardio Lead
Lindsay Meyers


Reproductive Lead
Betsy Swope


Cancer Lead
Scott Weissman


Schedule Your
Pediatric Consultation

Appointments as soon as the next business day

Schedule your sessionChat with us
With qualified insurance
the cost for a genetic counseling appointment may be as low as $50 if the consultation is a covered service under your plan. Learn More