amniocentesis - Page 2

Smith-Lemli-Opitz Syndrome: Causes, Symptoms & Treatment

Smith-Lemli-Opitz syndrome is a cogenital malformation syndrome. It is caused by one of a total of 70 gene mutations on chromosome 11q13.4. The disorder is autosomal recessive and is an extremely rare disease with multiple organ malformations and impaired cholesterol biosynthesis. What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome falls into the group of autosomal recessive inherited … Smith-Lemli-Opitz Syndrome: Causes, Symptoms & Treatment

Tay-Sachs Syndrome: Causes, Symptoms & Treatment

People with Tay-Sachs syndrome have a rare genetic disorder. They regress slowly as di disease leads to a comatose state accompanied by loss of acquired skills, seizures, and paralysis. In the final stages, patients lose consciousness and die. What is Tay-Sachs syndrome? Children born with Tay-Sachs syndrome have no future, because this disease is incurable … Tay-Sachs Syndrome: Causes, Symptoms & Treatment

Gene Mutation: Causes, Symptoms & Treatment

Changes in the human genome, that is, the totality of all genes, can manifest themselves in beneficial symptoms, but usually in adverse symptoms. The purpose here is to elucidate how gene mutations occur, how they are diagnosed, what type of symptoms they can cause, and how medicine treats and treats them. It is not possible … Gene Mutation: Causes, Symptoms & Treatment

Walker-Warburg Syndrome: Causes, Symptoms & Treatment

Walker-Warburg syndrome is an extremely rare inherited disorder whose effects affect the brain as well as the eyes and muscles. The symptoms, which are already apparent at birth, usually lead to the death of the children affected by it, who are severely disabled as a result, after only a few months. To date, there is … Walker-Warburg Syndrome: Causes, Symptoms & Treatment

Glycogen: Function & Diseases

Glycogen consists of glucose units and is a polysaccharide. In the human organism, it serves to provide and store glucose. The buildup of glycogen is called glycogen synthesis, and the breakdown is called glycogenolysis. What is glycogen? Glycogen is made up of something called glycogenin, a central protein to which thousands of glucose molecules are … Glycogen: Function & Diseases

The genetic examination

What is a genetic test? A genetic test describes an analysis of human DNA. The DNA is the carrier of the genetic material and is located in the cell nucleus, where it can be isolated by specific procedures. The DNA can then be examined. The smallest mutations can influence gene expression and have health consequences. … The genetic examination

What genetic tests for hereditary diseases are available? | The genetic examination

What genetic tests for hereditary diseases are available? The principle of every genetic examination is DNA sequencing. Here, the DNA is broken down into its building blocks, the gene section to be examined is multiplied and then analyzed. Basically, a distinction can be made between genetic examinations that take place before birth (prenatal diagnostics) and … What genetic tests for hereditary diseases are available? | The genetic examination

The preparation for the examination | The genetic examination

The preparation for the examination The preparation for the examination includes an indication – it must be clearly evident why one wants to do a genetic examination. In addition, the patient should be informed about possible effects and changes in his or her life if the test result is positive. After a certain period of … The preparation for the examination | The genetic examination

The duration of the results | The genetic examination

The duration of the results The duration of the results can vary greatly. It depends on which test is performed. Blood tests usually take less time than molecular genetic methods because the procedure is more complex. If you want an exact time, you should discuss this with your doctor or the laboratory. How reliable are … The duration of the results | The genetic examination

What are the alternatives? | The genetic examination

What are the alternatives? There is no real alternative to genetic testing. If a genetic disease is suspected, only a DNA analysis can provide the necessary information. It can confirm or even rule out the disease. Blood tests or imaging procedures are not an alternative. They can only point the way forward. If genetic diseases … What are the alternatives? | The genetic examination

Phenylketonuria: Causes, Symptoms & Treatment

The hereditary metabolic disorder phenylketonuria (PKU) occurs rarely, but if a child becomes ill, it requires a consistent diet from the first minute to prevent damage to brain development and complications that may arise. What is phenylketonuria? Phenylketonuria is a hereditary metabolic disease in which a certain protein component accumulates in the body, limiting brain … Phenylketonuria: Causes, Symptoms & Treatment

Rubella Embryofetopathy: Causes, Symptoms & Treatment

Rubella embryofetopathy is a rubella disease of the fetus. The infection is transmitted to the fetus via the placenta and causes severe malformations. Vaccine prophylaxis against rubella is strongly recommended before pregnancy. What is rubella embryofetopathy? Rubella virus is a human pathogenic virus from the viral genus Rubivirus, which belongs to the togaviruses. It is … Rubella Embryofetopathy: Causes, Symptoms & Treatment