Flashcards
Genetic testing techniques
Cards in this deck (18)
- 11. TRUE/FALSE? A. A karyotype can be done on an extracted DNA sampleFalse. Cell culture technique (lives cells required).
- 21. TRUE/FALSE? B. A karyotype can usually detect chromosomal deletions or duplications of 1-5Mb in sizeFalse. Detects imbalances of 5-10Mb.
- 31. TRUE/FALSE? C. A karyotype can detect both balanced and unbalanced translocationsTrue.
- 41. TRUE/FALSE? D. A normal karyotype excludes all balanced translocationsFalse. Submicroscopic chromosome disorders cannot be detected by karyotype.
- 51. TRUE/FALSE? E. A positive targeted FISH test confirms size of deleted regionFalse. Targets one gene in 'critical deletion region', does not provide details about size of deletion.
- 62. TRUE/FALSE? A. CMA can detect large triplet repeat expansionsFalse. DNA-based method to check genome-wide segmental chromosome deletions/duplications (copy number variations).
- 72. TRUE/FALSE? B. CMA is a first line test for a child with dysmorphism + developmental delayTrue
- 82. TRUE/FALSE? C. Although the interpretation may be uncertain, a VOUS is a definite abnormalityFalse
- 92. TRUE/FALSE? D. A CMA is usually abnormal in a child with Noonan syndromeFalse. 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.
- 103. 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.
- 113. TRUE/FALSE? B. Targeted testing for Fragile X is a first line test for DD/ID/ASD, preceding other gene testingTrue
- 123. TRUE/FALSE? C. “Clinical utility” of a gene test does not include impact on family planningFalse
- 133. TRUE/FALSE? D. Cost of testing is not a major issue for doctors practising in the public health systemFalse
- 144. TRUE/FALSE? A. The “clinical exome” includes all 20,000 known genes, but not non-coding DNAFalse. 1-2% exons (genes) encode translated protein.
- 154. TRUE/FALSE? B. WES/WGS finds fewer VOUS than chromosome microarrayFalse
- 164. 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 ADTrue
- 174. 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.
- 184. TRUE/FALSE? E. Patients having WES/WGS must be informed about all secondary/incidental findingsFalse