Podcast
Questions and Answers
What is a key consideration mentioned regarding genetic testing when a familial variant is known?
What is a key consideration mentioned regarding genetic testing when a familial variant is known?
What is a potential drawback highlighted in the text regarding the scope of genetic testing?
What is a potential drawback highlighted in the text regarding the scope of genetic testing?
Which type of sequencing detects single nucleotide changes according to the text?
Which type of sequencing detects single nucleotide changes according to the text?
What is an important factor to consider when deciding to use single gene sequencing according to the text?
What is an important factor to consider when deciding to use single gene sequencing according to the text?
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What is a significant advantage of performing genetic testing using multi-gene panels?
What is a significant advantage of performing genetic testing using multi-gene panels?
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Why might multiple testing methods be bundled together by a laboratory for certain indications?
Why might multiple testing methods be bundled together by a laboratory for certain indications?
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In what situation is single gene sequencing recommended according to the text?
In what situation is single gene sequencing recommended according to the text?
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Which statement accurately describes the role of next-generation sequencing in genetic testing?
Which statement accurately describes the role of next-generation sequencing in genetic testing?
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What distinguishes single gene sequencing from multi-gene panel testing?
What distinguishes single gene sequencing from multi-gene panel testing?
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What is an important consideration regarding incidental findings in genetic testing?
What is an important consideration regarding incidental findings in genetic testing?
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Study Notes
Whole Exome Sequencing
- Combines NGS methods and/or array platforms to sequence all genes simultaneously
- Identifies the unique order of DNA bases and compares it to a reference sequence and often to close family members' sequences
- Detects single nucleotide changes, small deletions or insertions, and some methodologies can detect deletions, duplications, and chromosomal rearrangements
- Used when other genetic testing options have been exhausted and suspicion for a hereditary condition remains high
- Ideal when results of testing could significantly alter management or family risk assessment
- Best when family trios are available to participate in testing
Limitations of Whole Exome Sequencing
- Slow and costly
- Inevitably detects multiple variants of uncertain significance and incidental findings
- Requires multiple family members for best interpretation of results
- Does not capture 100% of genetic material or all types of genetic variation
Benefits of Whole Exome Sequencing
- Comprehensive coverage
- May identify rare diagnoses with atypical presentation
Single Gene Sequencing
- Detects single nucleotide changes, such as single base substitutions or small insertions or deletions
- Used when the family mutation is unknown and one gene is significantly more likely than other genes associated with the same condition
- Can be performed in a targeted region or across the entire gene
Whole Genome Sequencing vs. Whole Exome Sequencing
- Whole Exome Sequencing analyzes only the protein-coding portions of the genome
- Whole Genome Sequencing analyzes protein-coding regions, regulatory regions, and sections with unknown function
General Considerations for Genetic Testing
- Testing can often be targeted when a familial variant is known
- Testing can be targeted to one or a few variants when they are more common in a specific population
- More than one testing method may be required
- Multiple tests may be bundled together by a laboratory for certain indications
- The wider the scope of testing, the greater the sensitivity and the risk for uncertain/uninformative and incidental findings
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Description
Learn about the methodology and process of whole exome sequencing, which involves a combination of Next-Generation Sequencing (NGS) methods and/or array platforms to simultaneously sequence all genes. It helps in identifying single nucleotide changes, small deletions or insertions, and can also detect deletions and duplications.
