10 Questions
Which type of genetic testing examines the chromosomes for visible alterations that indicate a genetic defect?
Cytogenetic testing
What does biochemical genetic testing assay for?
Specific metabolites
Which type of genetic testing examines DNA to determine if mutations are present?
Direct genetic testing
What is the term used to describe diseases that are present at birth and often caused by a mutation affecting enzyme function?
Inborn errors of metabolism
Which type of sample is typically used for biochemical genetic testing?
Spinal fluid
Which type of genetic testing involves the analysis of human RNA to detect alterations related to a heritable disorder?
Biochemical genetic testing
What is the term used to describe the alteration in enzymes that causes them to be absent, unstable, or have altered activity?
Inborn error of metabolism
Which type of genetic testing examines the chromosomes for visible alterations that indicate a genetic defect?
Cytogenetic testing
What is the term used to describe diseases that are present at birth and often caused by a mutation affecting enzyme function?
Inborn errors of metabolism
Which type of sample is typically used for direct genetic testing?
Blood
Test your knowledge on the biochemical and molecular genetics of human diseases with this quiz by Assit Prof. Niramon Thamwiriyasati, Ph.D. Learn about the past, present, and future of genetic testing and explore different types of genetic tests.
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