Genetic and chromosomal disorders

Chromosomal disorders: These disorders occur when there are missing or extra copies, or large scale rearrangements of chromosomes. They can severely affect a person’s physical and mental development.
Down’s Syndrome: This is an example of a chromosomal disorder and is caused by an extra copy of chromosome 21 (trisomy 21).
Turner’s Syndrome: Another chromosomal disorder, this occurs when females have only one X chromosome instead of two. There’s a wide range of effects, from minor physical anomalies to more significant issues such as infertility.

Gene disorders occur due to mutations in a single gene and cover a broad spectrum of health problems.
Cystic Fibrosis: This is an inherited disorder caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). It mainly affects the lungs and digestive system.
Sickle Cell Anaemia: Sickle cell disease results from a mutation in the HBB gene which codes for a portion of haemoglobin. The mutation changes the shape of red blood cells, reducing their ability to carry oxygen effectively.

Multifactorial disorders: These disorders occur due to variations or mutations in multiple genes and are often influenced by environmental factors.
Heart Disease: This is an example of a disease influenced by many genes. Lifestyle factors such as diet and exercise also contribute significantly to the risk of developing heart disease.
Type 2 Diabetes: This is also a multifactorial disorder. It’s influenced by several genes and lifestyle factors, such as diet, obesity, and physical activity.

Genetic testing: Genetic testing analyses a person’s chromosomes or genes for abnormalities which may cause a genetic disorder.
Prenatal diagnosis: Through procedures such as amniocentesis and chorionic villus sampling, potential genetic disorders can be identified in a fetus.
Newborn screening: This type of genetic testing is performed shortly after birth to identify genetic disorders early in life.
Carrier testing: This form of genetic testing is performed on people of reproductive age to determine whether they carry a copy of a mutated gene for a disorder.
Predictive testing: This is also known as pre-symptomatic testing. It’s used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be particularly helpful for people who have a family history of a genetic disorder.