A genetic disorder is a disease that is caused by an abnormality in the genome, or an organism’s complete set of DNA that includes all of its genes. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.
Some genetic disorders are caused by mutations that are inherited from a child’s parents and are present at birth, such as sickle cell disease. Other disorders are caused by acquired gene mutations that cause an abnormal division of cells in the body, such as Down syndrome or Turner syndrome. Such mutations are not inherited from a parent but occur either randomly or due to some environmental exposure like ultraviolet radiation.
Children’s Healthcare of Atlanta specializes in diagnosing genetic disorders in children—in some cases, even before birth. Many genetic disorders can be treated or managed with the right care. We have expertise in a wide range of genetic disorders, including:
- Skeletal disorders
- 22q deletion syndrome
- Chromosomal abnormalities, such as Down syndrome, Trisomy 18 and 13, and Turner syndrome
- Craniofacial disorders
Our pediatric geneticists offer testing for a full range of genetic disorders, from before birth to early adulthood. We can refer your child to other Children’s specialists to help make sure your child gets the care that meets all his needs and to help you and your family cope with any related challenges.
Tests for birth defects
One of our most vital and widely used services is testing for birth defects. We offer:
- Chromosome studies
- Extended banding
- Fluorescence in situ hybridization (FISH)
- Chromosomal microarray analysis
- Studies for single gene defects
- Direct DNA studies
- Indirect DNA studies
- Biochemical genetic testing
We can help determine whether your child has or is at risk for a genetic disorder or disease through:
- Diagnostic testing: Diagnostic testing is used to identify or confirm the diagnosis of a disease or condition, in most cases providing a definite yes or no answer. It is sometimes helpful in determining the course of a disease and next steps.
- Predictive genetic testing: Predictive genetic testing determines the chances that a healthy person might develop a certain disease. Predictive testing is available for some diseases that may not show up until adulthood, such as some types of cancer, cardiovascular disease and some single gene disorders.
- Pre-symptomatic genetic testing: Pre-symptomatic genetic testing determines whether a person with no symptoms but with a family history of a disease has the genes associated with that disease.
- Carrier testing: Carrier testing can determine whether a person carries a copy of an altered gene for a particular disease. The disease may be autosomal recessive, which means a person has the disease only if two copies of the altered gene are inherited. Carrier testing for X chromosome-linked conditions is usually only done in females.
- Prenatal diagnosis: Prenatal diagnosis is used to identify a genetic disorder or condition before a baby is born. It can include maternal serum screening, an ultrasound (sonograms), amniocentesis, a chorionic villus sampling (CVS) and percutaneous umbilical blood sampling (PUBS).
- Pre-implantation studies: Pre-implantation studies are used after an in vitro fertilization to check for a genetic disorder or condition in an embryo before it’s implanted into the mother’s uterus.
- Newborn screening: Newborn screenings can detect certain genetic disorders so that treatment and management can begin as soon as possible.
Support groups and other resources can be helpful for children and families affected by a genetic disorder. Here are some excellent places to start:
Physicians across many specialties care for pediatric patients with genetic diseases. As we learn more about these complex disorders, ophthalmologists, neurologists, endocrinologists, craniofacial surgeons, cardiologists and rheumatologists are becoming more knowledgeable about genetic disorders and considering their possibility more often. These doctors refer patients to our Children’s genetics team for diagnosis and other services.
Your child will most likely be seen first in one of our general genetics clinics. If diagnosed with a specific disorder, he may then be referred to a multidisciplinary clinic focusing on that disorder. For example, we have clinics for metabolic disorders, neurofibromatosis, Down syndrome, fragile X syndrome and lysosomal storage disease.
Center for Advanced Pediatrics
1400 Tullie Road NE
Atlanta, GA 30329