Genetic Disorders | Diagnosis & Treatments

How we look for genetic disorders

Boston Children's provides genetic testing for pregnant women, newborns, and children of all ages. In some cases, a diagnosis can be made after a physical exam. Most of the time, genetic disorders are diagnosed through a specific test, which can include examining chromosomes or DNA (the tiny proteins that make up genes), or testing the blood for certain enzymes that may be abnormal. Studying enzymes is called biochemical genetic testing.

At your initial appointment, a member of the genetics team (a genetic counselor, a clinical genetics fellow, and/or a geneticist) will review your medical, family, and pregnancy history and perform tests. Tests may include x-rays, an MRI, or genetic tests (usually blood or urine tests). Your child may also be referred to a specialty clinic within the hospital.

The different categories of genetic tests are:

  • Predictive genetic testing can tell you the chances that a healthy person with or without a family history of a certain disease might develop that disease. These diseases can include some types of cancer and heart disease.
  • Presymptomatic genetic testing can tell if a person with a family history for a genetic disease but does not have symptoms or has a genetic alteration associated with the disease.
  • Carrier testing can determine if a person carries one copy of a gene linked to a certain disease. An "autosomal recessive" disease means that the disease will appear only if two copies of the altered gene are inherited. Couples who both carry the same autosomal recessive gene have a one in four, or 25 percent, chance with each pregnancy to have a child with that disease.
  • Prenatal diagnosis is used to diagnose a genetic disease or condition in the developing fetus. Prenatal tests include screening blood, ultrasound (sonograms), amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).
  • Preimplantation studies are used only in in vitro fertilization to diagnose a genetic disease in an embryo before it is implanted into the mother's uterus.
  • Newborn screening is used to check for certain genetic disorders that can be diagnosed and treated early in life.

How we address genetic disorders

Tying genetics to dyslexia allows us to identify a potential problem at birth, so that gives us the earliest possible chance to intervene. Doctors might make diagnoses using brain imaging, before reading even starts.

Christopher Walsh, MD, PhD, Boston Children's Hospital Chief of Genetics


Treatment of genetic disorders varies depending on the specific disease. In some cases, such as autism, the symptoms are treated with medication, behavioral, and educational interventions. Other disorders, such as PKU (phenylketonuria), can be managed through diet, while some of the physical symptoms of certain genetic diseases can be corrected with surgery. In many cases, your child will need ancillary services that may include speech therapy and occupational therapy, among others.

Whatever your child's diagnosis, a member of your child's genetic team will discuss treatment options with you and your family and make the appropriate referrals when necessary. We understand the kinds of challenges children and families with genetic disorders face and can connect you with outside resources for additional support.