Genetic testing techniques

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12.1 2018
Averil Tam
Flashcards by Averil Tam, updated more than 1 year ago
Averil Tam
Created by Averil Tam over 6 years ago
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1. TRUE/FALSE? A. A karyotype can be done on an extracted DNA sample False. Cell culture technique (lives cells required).
1. TRUE/FALSE? B. A karyotype can usually detect chromosomal deletions or duplications of 1-5Mb in size False. Detects imbalances of 5-10Mb.
1. TRUE/FALSE? C. A karyotype can detect both balanced and unbalanced translocations True.
1. TRUE/FALSE? D. A normal karyotype excludes all balanced translocations False. Submicroscopic chromosome disorders cannot be detected by karyotype.
1. TRUE/FALSE? E. A positive targeted FISH test confirms size of deleted region False. Targets one gene in 'critical deletion region', does not provide details about size of deletion.
2. TRUE/FALSE? A. CMA can detect large triplet repeat expansions False. DNA-based method to check genome-wide segmental chromosome deletions/duplications (copy number variations).
2. TRUE/FALSE? B. CMA is a first line test for a child with dysmorphism + developmental delay True
2. TRUE/FALSE? C. Although the interpretation may be uncertain, a VOUS is a definite abnormality False
2. TRUE/FALSE? D. A CMA is usually abnormal in a child with Noonan syndrome False. Normal chromosome studies. Inherited in families in an autosomal dominant pattern - a person who has Noonan syndrome has one copy of an altered gene that causes the disorder.
3. TRUE/FALSE? A. “Genetic heterogeneity” refers to different mutations within the one gene (e.g. >1000 known mutations in CF gene) False. Refers to differences in DNA bases (ATCG) eg. homozygous AA, heterozygous G, normal GG.
3. TRUE/FALSE? B. Targeted testing for Fragile X is a first line test for DD/ID/ASD, preceding other gene testing True
3. TRUE/FALSE? C. “Clinical utility” of a gene test does not include impact on family planning False
3. TRUE/FALSE? D. Cost of testing is not a major issue for doctors practising in the public health system False
4. TRUE/FALSE? A. The “clinical exome” includes all 20,000 known genes, but not non-coding DNA False. 1-2% exons (genes) encode translated protein.
4. TRUE/FALSE? B. WES/WGS finds fewer VOUS than chromosome microarray False
4. TRUE/FALSE? C. In cohort of children with ID/dysmorphism, with no family history, and unrelated parents, the majority of disorders diagnosed by WES are de novo AD True
4. TRUE/FALSE? D. If WES is not diagnostic, WGS will be. False. Significant filtering of data - known benign variants, known pathogenic, in silico predictions, inheritance models.
4. TRUE/FALSE? E. Patients having WES/WGS must be informed about all secondary/incidental findings False
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