Notes in LE006 DNA Diagnostics

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Published	10/03/2024	What are the three basic types of genetic diseases?
Published	10/03/2024	Chromosomal genetic diseases usually occur {{c1::sporadically }}
Published	10/03/2024	Chromosomal disorders are {{c1::usually severe}} and include unrelated major and minor anomalies
Published	10/03/2024	Chromosomal disorders often involve {{c1::developmental disability }}
Published	10/03/2024	Single gene genetic diseases usually include one gene with a {{c1::major phenotypic effect }}
Published	10/03/2024	Single gene genetic disorders often {{c1::run in families}}
Published	10/03/2024	An example of a chromosomal disorder is {{c1::down syndrome }}
Published	10/03/2024	An example of a single gene disorder is {{c1::cystic fibrosis }}
Published	10/03/2024	An example of a multifactorial genetic disease is {{c1::type 2 diabetes }}
Published	10/03/2024	Multifactorial disorders do not follow a {{c1::predictable inheritance pattern }}
Published	10/03/2024	How do we cause metaphase arrest for karyotypes?
Published	10/03/2024	Why do we stain chromosomes on karyotypes
Published	10/03/2024	What is on the spectrum of DNA sequencing
Published	10/03/2024	What is on the spectrum of hybridised-based assays for DNA visualization
Published	10/03/2024	How are biochemical tests useful in the context of DNA diagnostics
Published	10/03/2024	What are the 5 scenarios when genetic testing is used ( D, Px3, S)
Published	10/03/2024	What is the primary purpose of a screening test?
Published	10/03/2024	What is the primary purpose of a diagnostic test?
Published	10/03/2024	What are the five common samples taken for genetic testing?
Published	10/03/2024	What does CLIA stand for?
Published	10/03/2024	Labs not meeting {{c1::Clinical Laboratory Improvement Act}} standards may not provide data for patient care but may use this data for research
Published	10/03/2024	What four kinds of labs offer genetic testing (UCSD)?
Published	10/03/2024	Define an incidental findings
Published	10/03/2024	Define and give an example of primary prevention in genetic testing
Published	10/03/2024	Define and give an example of secondary prevention in genetic testing
Published	10/03/2024	Define and give an example of tertiary prevention in genetic testing
Published	10/03/2024	Define and give an example of quarternary prevention in genetic testing
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