An inherited genetic disease means a gene mutation or mutations were passed down to you from your parent(s). Examples of genetic disorders caused by a single gene mutation that’s been inherited are:
- albinism
- hemophilia
- cystic fibrosis
- color blindness
- phenylketonuria
- Wilson’s disease
- Marfan syndrome
- neurofibromatosis
- hemochromatosis
- sickle cell anemia
- retinitis pigmentosa
- Huntington’s disease
- Von Willebrand disease
- polycystic kidney disease
- congenital adrenal hyperplasia
Some genetic disorders that seem to be inherited might be caused by multiple mutations in combination with environmental factors, for instance heart disease, diabetes, schizophrenia and certain cancers.
Inherited genetic disorders are brought to you via dominant or recessive inheritance pattern. Dominant inheritance means that it only takes one parent to pass a mutated gene for the disease to be expressed. Recessive requires a contribution from both.
Not all genetic disorders are inherited from your parents. Mutations can also occur randomly.
Genetic testing analyzes your genes to find genetic disorders based on mutation location. This test is used for several reasons, such as:
- screening embryos for disease
- possible genetic diseases in an unborn baby
- testing for genetic diseases before it causes symptoms
- finding if you are a carrier of a gene for a genetic inherited disease
- confirming a a genetic disease diagnosis when symptoms are present
A genetic counselor can help assess your risk of having a child with an inherited genetic disorder and will explain treatments, preventive measures and reproductive options after genetic testing confirmation.
