Alzheimer’s disease
Alzheimer’s disease affects the central nervous system and is most common among elderly people. It is a progressive disease in which brain cells degenerate until eventually the disease leads to the patient’s death. The main symptoms are cognitive decline and memory loss. As the disease progresses, more brain functions become impaired, until patients in the […]
Ataxia telangiectasia
Ataxia telangiectasia syndrome, also known as Louis-Bar syndrome or AT, is an inherited disorder with an autosomal recessive inheritance pattern. This means that for a child to inherit this condition, both parents must pass down a copy of the relevant gene mutation. Therefore, when both parents are carriers, the chances of their child to develop […]
Omphalocele
Omphalocele is a birth defect that affects the abdominal wall. This congenital abnormality causes the abdominal organs (such as the bowel and liver) to stick outside of the abdomen. This defect is usually detected during prenatal screening tests, such as an ultrasound test. In some cases, only a small portion of the intestine sticks out […]
SMA – genetic testing for Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a severe disease with a prevalence of 1 in 6,000-10,000 births. This disease has an autosomal recessive inheritance pattern. This means that a child must inherit a mutated copy of the relevant gene from each of their parents to develop this condition. However, in rare cases (less than 5 percent […]
Pierre Robin sequence
Pierre Robin sequence Pierre Robin sequence (PRS) is a genetic condition characterized by a smaller lower jaw (micrognathia). It is called a “sequence” because it comprises an initial anomaly that causes a series of other subsequent malformations. In this case, micrognathia leads to downward displacement of the tongue, which in turn results in a malformation […]
Lipoamide dehydrogenase deficiency – genetic testing for LDD
Lipoamide dehydrogenase deficiency is an inherited disease with an autosomal recessive inheritance pattern. This means that to develop this disease, two mutated copies of the relevant gene must be inherited, one from a person’s mother and one from their father. Diagnosis and genetic testing Unlike prenatal screening tests offered to parents-to-be in the general […]
