Inherited Diseases

Our Inherited Disease Panel tests for over 300 genes with over 700 unique inherited diseases, including neuromuscular, cardiovascular, developmental, and metabolic diseases and is often used to show a genetic compatibility between a couple or exclude it

It is now possible to test for a range of inherited conditions with our inherited diseases panel tests, which can be used to identify over 700 inherited diseases. These tests can be used to check genetic compatibility between couples and reveal any risks of having a child with an inherited condition.

HOW ARE DISEASES INHERITED?

Every cell in our bodies contains 22 pairs of chromosomes (44 in total in each cell). Each pair contains one inherited from the mother and one from the father. Some medical conditions can be inherited through defective genes being passed down from parent to child. The genes in the parent may have always been defective or a genetic mutation may have occurred, where the DNA is altered (e.g. exposure to certain chemicals causing cell genes to mutate).

There are two types of genetic inheritance of diseases:

Dominant inheritance – this is where only one parent needs to carry the defective gene for it to be inherited by the child. If either parent has the genetic defect, there’s a 50% chance this will be passed onto the child. Examples of diseases inherited this way include Type 1 neurofibromatosis and Polycystic kidney disease.

Recessive inheritance – this is where both parents need to carry the defective gene for it to be passed on to the child. If both parents have the defective gene, there’s a 25% chance of the child inheriting both copies of the gene and thus the genetic condition. The chance of just one parent passing on the defective gene is 50%. In this case, the child won’t inherit the disease but will be a ‘carrier’ who may pass the condition on to their children. Diseases inherited this way include Cystic fibrosis and Sickle cell anaemia.

There is also a variation of recessive inheritance caused by a defection on the X chromosome. This will affect males (who have XY chromosome pairs) differently to females (who have XX chromosome pairs). Females can carry the defective gene but don’t usually develop the condition (as the healthy X chromosome in the pair compensates for the defective one) and males can only inherit the defective gene from the mother (as they receive a Y chromosome from the father). Inherited diseases passed down this way include muscular dystrophy and haemophilia.

HOW INHERITED DISEASE TESTING CAN HELP YOU

You can undergo a preconception test to check genetic compatibility with your partner and screen for potential genetic disorders that may be passed onto your children. This will help you identify any risks of your children developing genetically inherited diseases. If preconception testing shows that both prospective parents are carriers of a genetic condition, you will be able to discuss reproductive options with your doctor or other health professionals.

It’s important to remember that many conditions aren’t caused purely by defective genes but by a combination of genes and environmental factors. Many people inherit genetic disorders but don’t develop the condition during their lifetimes.