Overview
A genetic disorder occurs when your genes are altered (mutated). Carrying the gene does not necessarily lead to a disorder appearing as some genes remain silent in the body
(recessive) and only cause the disease if both parents carry them. Different types of genetic disorders exist, including those caused by single genes, multifactorial conditions
and chromosomal conditions.
Symptoms and Diagnosis
Symptoms and signs of genetic disorders are variable and can be seen in isolation or in a combination with the following
- Cognitive impairment, when the brain can’t process information as it should
- Limb or facial abnormalities
- Neurological issues such as seizures
- Developmental delays
- Breathing problems
- Poor growth or short stature
- Digestive and eating problems
- Movement disorders
A DNA test can be important if there is a family history of genetic disorders. Among the options are:
Diagnostic testing
Genetic testing can reveal if you have a disease that may be caused by changes (mutations) in your genes.
Carrier testing
Expanded carrier screening tests can identify genes associated with a wide range of genetic diseases and mutations and determine if you and your partner are carriers.
Prenatal screening
There are tests that can detect abnormalities in your baby's genes during pregnancy.
Newborn screening
This is a screening blood test used at a national level to screen for multiple genetic and metabolic diseases and is required in some countries. Newborns are tested for certain
genetic and metabolic abnormalities that cause specific conditions.
Treatment
Treatment of genetic conditions depends on the diagnosis. Treatment can involve hormone replacement, surgery, physio and occupational therapy, psychological counseling, or a
combination of these.
