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How is the genetic test done?

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How is the genetic test done?

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A tissue sample can be obtained by taking blood or by doing a cheek swab. Both ways are reliable. About 15% of those with iron overload do not have mutations of HFE. Genetic testing does not provide information about tissue iron levels.

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A. A blood sample is taken and sent to a specialized lab where the genetic material, also called DNA, is removed. Special laboratory techniques allow the SOD1 gene to be replicated and then tested. One form of testing is running the sample on a gel to generate a series of bands. If a genetic change is present, the bands will be in a different location compared to a control sample, which is known not to have a genetic change in the SOD1 gene. This method is called single strand conformation polymorphism or SSCP for short. Another method called sequencing may also be used to either initially test or confirm results. Sequencing is able to view the DNA on a finer scale by displaying the actual letters of the “instruction book” so that changes can be seen.

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A. A blood sample is taken and sent to a specialized lab where the genetic material, also called DNA, is removed. Special laboratory techniques allow the SOD1 gene to be replicated and then tested. One form of testing is runnign the sample on a gel to generate a series of bands. If a genetic change is present, the bands will be in a different location compared to a control sample, which is known not to have a genetic change in the SOD1 gene. This method is called single strand conformation polymorphism or SSCP for short. Another method called sequencing may also be used to either initially test or confirm results. Sequencing is able to view the DNA on a finer scale by displaying the actual letters of the “instruction book” so that changes can be seen. Q. How long does the genetic test take? A. Because five different parts of the SOD1 gene need to be looked at, the testing usually takes about 2-3 months.

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