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Prenatal Screening (Prenatal Testing) in Clinical Chemistry Labs - Research Paper Example

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This paper "Prenatal Screening (Prenatal Testing) in Clinical Chemistry Labs" will discuss the concepts of prenatal screening and some aspects of its implementation in order to prevent various diseases and disorders which are described in the present paper as well…
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Prenatal Screening (Prenatal Testing) in Clinical Chemistry Labs
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Download file to see previous pages Disorders of prenatal testing include dominant gene disorders. When one of the parents suffers from the dominant gene disorder, then there is a 50 percent likelihood of the baby to inherit such genes and develop the disorder. Achondroplasiais is a form of short-limbed dwarfism that literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. The disease is inheritable from an affected parent and in most cases occurs with no family history (Cunningham, 2010). The testing procedure entails direct mutation analysis, which involves analysis of samples using PCR assay. Polymerase chain reaction (PCR) refers to a technique used to amplify and copy small DNA segment. Once the DNA are amplified, they are then used in clinical labs in process such as detection of viruses and bacteria and diagnosis of genetic disorders. In order to amplify DNA segments, the sample is heated for DNA denaturing and then the tag polymerase synthesizes and builds two new DNA strands
Huntington’s disease is a brain disorder, which affects an individual ability to think, talk, and move. It destroys cells located in the basal ganglia brain section that controls emotion, movement, and cognitive ability. It is caused by mutation of genes on chromosome 4. Clinical methods used in clinical diagnosis include chronic villus sampling, amniocenteses, and PCR. Examples of recessive gene disorders include Cystic Fibrosis and Tay-Sach’s disease. Cystic Fibrosis is a genetic disorder, which affects the digestive system and the lungs increasing vulnerability to lung infections. It disrupts the normal functioning of epithelial cells and the digestive system. Amniocenteses and chronic villus sampling diagnose it. Tay- Sachs diseases is a progressive fatal genetic disorder, which affect the nerve cell in the brain. It occurs when neither of the parent HEXA genes works properly due to mutation. Amniocentesis is normally used where a blood sample measures HEXA levels. . Other disorders diagnosed in clinical chemistry labs include X- Linked disorders. They refer to disorder determined by genes attached on the X- chromosome. Both the X and Y-chromosomes determines the sex of a child. These disorders are most common among boys because the pair of the sex chromosome in male has only one X chromosome and the other is the Y-chromosome. When the gene disease is present on the X chromosome, then the X- linked disease manifests because of the absence of a paired gene to override the disease gene. Hemophilia is an example of the linked disorder, which prevents blood clotting. It the ability of blood from coagulating When blood vessels are injured, a temporary scab fails ...Download file to see next pagesRead More
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