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. 2019 Jun 11;27(11):1639–1648. doi: 10.1038/s41431-019-0452-z
Test attribute Whole genome sequencing Whole exome sequencing Cardiac panel test Genetic testing not indicated
Ability of the test to identify pathogenic mutations Pathogenic mutation is identified in 40 out of every 100 cases Pathogenic mutation is identified in 50 out of every 100 cases Pathogenic mutation is identified in 30 out of every 100 cases Pathogenic mutation is identified in 0 out of every 100 cases
Ability of the test to identify variants of unknown significance Variant of unknown significance is identified in 30 out of every 100 cases Variant of unknown significance is identified in 10 out of every 100 cases Variant of unknown significance is identified in 20 out of every 100 cases Variant of unknown significance is identified in 0 out of every 100 cases
Test cost £3000 £500 £600 £0
Quantity of counselling required 50 min 60 min 20 min 0 min
Disclosure of secondary findings No secondary findings disclosed No secondary findings disclosed No secondary findings disclosed No secondary findings disclosed