Kamis, 03 April 2014

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Human Genetic Disorder Procedure Test

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Clinical genetic experts and other professional health experts usually use several tests and procedures to determine whether a person has a genetic disorder or has a child who risks to carry genetic disorder. The test may be conducted several times in the person's life. The following procedures are usually conducted.

The Following Procedures are Usually Conducted


  • Human Genetic Disorder Procedure Test Pre-Implantation Diagnoses, Pre-implantation diagnose is a kind of test that can be conducted in early possibility of life stage. The test is conducted along with in vitro insemination, that is, a procedure to integrate egg cell with sperm cell in a laboratory. Before an embryo resulted from in vitro insemination is attached in mother's womb, the doctor will first remove one cell from the developing embryo to analyze its DNA. DNA analysis is conducted to find out the correlation between abnormality and certain genetic disease that comes up.
  • Human Genetic Disorder Procedure Test Pre-natal Observation There are two types of prenatal tests to determine whether the fetus has abnormal gene or chromosome. The first test is conducted by examining genetic abnormality toward villous in chorion in the tenth week of pregnancy. The tissues are taken from the parts of the growing placenta. 
The second test is taken by using amniosynthesis technique, particularly towards mother above 35 years old. The test is conducted on the 14th and 20th weeks of pregnancy. In his case, the doctor will take several spoons of amnion fluid containing urine and fetus cells which can be used to find out the chromosome condition within cell. The cells inside amnion fluid can also be used to check the presence of DNA mutation and enzymes that become identification mark of genetic abnormality.


  • Human Genetic Disorder Procedure Test Prenatal Screening

Prenatal Test Technique for Genetic Disorder



  1. Chorionic villous sampling (CVS)
  2. amniosynthesis


Prenatal screening is a genetic screening conducted during pregnancy period to identify fetus towards the risk of the presence of genetic abnormality. The screening is conducted by analyzing the existence of 3 substances in pregnant mother's blood, which are fetoprotein, estriol and gonadotropin in human chorion. The substances are important to sign a certain problem happening to the fetus.

  • Human Genetic Disorder Procedure Test Observation After Birth Genetic observation to the newborn baby is needed to identify genetic disorder that can affect the baby. The newborn baby that has a sicklemia anemia disease is at risk of death. To prevent the risk, the baby will be given antibiotic immediately after being diagnosed. If the baby has PKU case, the doctor will give a special diet recipe that does not contain phenylalanine. If the baby has galactosemia case, the doctor will usually give a diet of galactose. The purpose of the diet is to prevent from such additional substance on the level that can cause mental disorder and death. 
  • Human Genetic Disorder Procedure Test Observation toward. Carrier Individual This test is usually aimed to diagnose recessive gene abnormality within autosome which is usually experienced by a person with certain ethnic background. For example, Jew descendants in East Europe territory will be observed to find out the carrier possibility toward Tay-Sach disease, cystic fibrosis and Canavan disease (a sort of nerve abnormality disease). Jew or Italian descendants will always be observed toward the case of thalassemia B, while Southeast Asian and Chinese descendants will always be observed toward thalassemia alfa case.
  • Human Genetic Disorder Procedure Test FamiIy Tree Observation Family tree can be used to trace back certain genetic characteristic pathway to three or more generations. 
 For example, a family tree which illustrates a gene inheritance related to cystic fibrosis will be very useful for the genetic advisor to determine a person within the family who risks to inherit one genetic abnormality or abnormal gen carrier. A family health history will be useful to identify the level of person health toward the risk of a genetic abnormality development. To gain the family's historical data, the health Expert will ask the health history of the family members to three or more generations. The information will be recorded as a graphic picture.


Example Human Genetic Disorder Procedure Test FamiIy Tree Observation


Hemophilia Inheritance In Russian Kingdom family. Through family tree map, genetic characteristic pathway is traced back to three or more generations.



Source: Biology, concept &connection, 2006

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