Discussion of genetic disease assignment – Genetic Testing

Instructions:

Within your group write a short essay addressing these points for one of your assigned diseases:

1. Use the Genetic Testing Registry (GTR (Links to an external site.)) website to learn about genetic tests available. Comment on the type of tests available then use one specific test to answer the remaining topics in this section. Provide the lab name and their location.
2. Use information from lecture 11 to explain how this test method works. Explain what the test results would be expected to look like for individuals who have the disease.
3. Use Gene Reviews (Links to an external site.) to determine if newborn screening is routinely performed.

Discussion of genetic disease assignment – Genetic Testing Answer

Down syndrome or Trisomy 21 syndrome is a genetic condition that can result in spontaneous miscarriage or if pregnancy is brought to term can result in cognitive disabilities or other developmental delays. Most cases of Down syndrome is caused by the presence of an extra chromosome 21 but there are instances less than 5% of cases are due to translocation (when a extra portion of chromosome 21 is stuck to another) or mosaicism (when some cells have extra chromosome 21 and others do not).