Down syndrome
Down syndrome is the most common chromosome abnormality, it occurs in 1 in every 600 births and is caused by an extra copy of chromosome 21. The disorder is also known as trisomy 21. Down syndrome symptoms include distinct physical features, intellectual disability, heart defects, digesting track defects, vision and hearing disorders and other health […]
Tay-Sachs disease
Tay-Sachs is a severe disease that causes neurological problems. Tay-Sachs disease is usually fatal, babies with this condition usually do not pass the age of 4 years. Since it is considered one of the most severe genetic disorders, it is tested in all genetic prenatal screenings. Babies with Tay-Sachs are usually born healthy and develop […]
Intellectual disability – genetic testing for developmental delay and intellectual disabilities
Intellectual disability is a term describing limitations in a person’s cognitive abilities, combined with other limitations in skills. There are many causes for developmental delay. A small percentage of intellectual disability cases are linked to genetic and hereditary causes, and in some cases the cause is unknown. The functioning abilities of people with intellectual […]
Cystic Fibrosis – Genetic testing for Cystic Fibrosis (CF)
Cystic Fibrosis (also known as CF) is a hereditary genetic disease that causes damage to the lungs and digestive system. Genetic and pathological basis of cystic fibrosis Cystic fibrosis is caused by a fault in the gene responsible for protein coding in the ion channels in the body. These channels move chloride from the cells. […]
Autism – is there a genetic test for autism?
Autism – is there a genetic test for autism? Autism is a neurological developmental disorder characterized by difficulty in communication development and repetitive behaviors. Today, autism is not referred to as an individual disease, but as a wide range of conditions called the autism spectrum disorder (or ASD), that relate to different levels of communication […]
Genetic testing for pemphigus disease
Pemphigus is a rare autoimmune disease that affects the skin and mucous membranes (the mouth, throat, eyes, and genitals). Symptoms include blisters in the folds of the skin such as the groin, underarms, neck and under the breasts. The infected areas may become scaly, irritated, and inflamed. Skin irritation tends to worsen with exposure to […]
