Genetic Testing

                                       What are Genetic Disorders?

A genetic disorder is an illness caused by a flaw in genes or chromosomes. Nearly all diseases have some genetic components like some cancers are caused by mutation in a gene or in a group of genes in the individual's cells. Such mutations can occur due to exposure to the enviroment while other diseases are hereditary - such as Huntington disease or Marfan's disease - where a mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease.

 

 

                                         Single-Gene Disorders

Single-gene disorder is caused by a mutation in a single gene which is also called Mendelian or monogenic disorders. The mutation may be present in one or both chromosomes (one chromosome inherited from each parent). There are about 4000 human diseases caused by single gene defect. For example, cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease are some of the disorders. Gene mutations occur in two ways : they can either be inherited by a parent or they can occur in a person's lifetime. Mutations that only occur in the egg or sperm cell or those that accur after fertilization are called new 'de novo' mutations. It explains the mutation in which only the child is affected with no family history of the disorder. Som of the genetic changes are very rare while others are common in the population. The genetic changes occur in more than 1% of the population which is called polymorphisms. They are common enough to be considered a " normal variation" in the DNA. Even though polymorphisms don't particulary have negative roles, they do have some variations that may influence the risk of developing some disorders. They are also responsible for a lot of the normal differences such as eye color, blood type, and hair color.

 

 

                                          Multifactorial Disorders

Multifactorial disorders are genetically linked disorder which is not entirely herediatary. They are a result of multiple gene mutations and enviromental factors. Cancer, obesity, diabetes, high blood pressure, heart disease, and arthritis are all examples of multifactorial inheritance disorders. If you happen to have one of the genes that causes of them, your enviroment can greatly influence it to make it even worse.

 

 

                                          Mitochondrial Disorders

Mitochondrial disease is a group of disorders caused by a dysfunctional mitochondria. Mitochondria is really important, it is found in every cell of your body except your red blood cells. The diseases include a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or unpredictable. There are no particular treatments for this disease though.

 

 

 

                                          Chromosomal Disorders

Chromosomal disorders are generally caused by mutations that affect a specific chromosome. This disease isn't necessarily inherited, but they are more likely radnom genetic errors that happen during the reproductive process. Sometimes the actual structure of the chromosome may be produced incorrectly. It is not completely clear what actually causes the mutations to occur.