Genetics and the Importance of Genetics Testing
Genetics is the scientific study of genes and heredity—of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA sequence.
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DNA contains genes that tell our bodies how to develop, grow, and function. Everyone has two copies of each gene; one copy from their mother and one from their father. Sometimes, our genes have errors, or variants, that cause the gene to stop working properly. When a gene is not working properly, it may cause problems for a particular body system or organ, resulting in a genetic condition.
Genetic testing is used to identify variants in genes and diagnose genetic conditions. Identifying an underlying genetic condition can provide information about a person’s health and how it may or may not change over time. It may also provide information on how it is passed through a family. Sometimes, a genetic diagnosis can change a person’s management or treatment plan.
Genetic conditions can be inherited in different ways.
The three main inheritance patterns are autosomal dominant, autosomal recessive, and X-linked. Everyone is expected to have 23 pairs of chromosomes. The first 22 are the same in everyone. The last pair, called the sex chromosomes, determines sex. Females have 2 X chromosomes and males have an X and a Y chromosome. Dominant and recessive inheritance occurs with genes on the first 22 chromosomes. X-linked inheritance occurs with genes on the X chromosome.
Meet with a genetic counselor to go through inheritance patterns and genetics in more detail.
• Affects males and females equally
• Children of an affected person have a 50% chance to inherit the genetic change.
• Affects males and females equally.
• Both parents are likely “carriers.” Carriers are not expected to have signs of the condition.
Partners who are carriers for the same condition have a 25% chance of having an affected child.
All of the children of an affected individual will be carriers.
• When a gene is located on the X chromosome, it follows an X-linked inheritance pattern
• Males (XY) are more likely to be affected than females (XX).
• Female carriers may have mild features of the condition or have no symptoms
Female carriers have a 25% chance of having an affected son and a 25% chance of having a carrier daughter
For an affected male, all his daughters will be carriers. All his son's will be unaffected, as he passes down his Y chromosome to them.