Empowering Families with Knowledge and Choices through Genetic Counseling and Testing
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Inherited diseases are those caused by a gene mutation or chromosomal change that is passed from parent to child during the reproductive process. This DNA change may be passed in one of several different types of genetic inheritance –
Genetic testing is a process which involves sampling an individual’s DNA (their genetic makeup), in order to identify gene or chromosomal changes which might impact on their health, and that of their future children. There are many different types of genetic tests, and each one will involve identifying a specific gene mutation or confirming the presence of a specific rare disease, or type of rare disease.
A genetic disorder may also be referred to as a genetic syndrome, or more commonly a rare disease. There are currently 7,000 and counting genetic disorders identified at present. A genetic disorder may be an inherited condition, where parents pass down gene mutations to their children which then cause a rare disease. Or they may be the result of a spontaneous and random gene or chromosomal change which occurs during the reproductive process.
Sibling DNA testing compares the DNA (hereditary genetic material) of two people to see if there is some probability that they are biological siblings (sister or brother). They may be full siblings, half siblings, or not at all related.
Marfan syndrome is a condition which affects the connective tissue in the body. As this tissue can be found throughout the body, the syndrome can affect multiple parts of the body. The three main parts of the body affected by the syndrome include the ocular system (the eyes), the skeletal system, and the cardiovascular system.
Genetic testing for Fragile X syndrome became much more accurate once the specific gene responsible for causing the syndrome, FMR1 was identified. This was then able to replace the chromosome genetic testing which had been the norm before this.
The role of a genetic counselor is essential for rare disease patients and their families. We take a look at what a day in their life might look like. Genetic counselors are many things. Their role is multi-faceted and involves wearing many different hats in the course of their working day and professional life.
It is a form of genetic screening that pregnant women can opt for, usually early in their pregnancy, around the 10th week. As a screening test it involves the taking of a blood sample from a pregnant woman. The blood of a pregnant woman contains their unborn baby’s DNA in their bloodstream. Cell free DNA testing screens this DNA for chromosomal abnormalities.
Developmental delay is any noticeable and considerable delay in a child’s physical, cognitive, or social and emotional development. Some of the most well known, or most looked for examples of development delay, include late walking in an infant, delayed speech acquisition, and intellectual disability.