Key result
The study prospectively investigated whether using known genotype-phenotype correlations improves mutation detection success in LQTS index patients, but quantitative results were not reported.
Why the study?
Does the use of known genotype-phenotype correlations improve the success rate of mutation detection in the first gene analyzed in LQTS index patients?
Population
Long QT syndrome (LQTS) index patients
Design
Cohort
Authors
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Novel LQTS finding in relatives is hypothesis-generating; leaves open need for validation before screening changes.
Observational
Does the use of known genotype-phenotype correlations improve the success rate of mutation detection in the first gene analyzed in LQTS index patients?
The study investigates whether using clinical genotype-phenotype correlations can improve the efficiency and success rate of initial genetic testing in long QT syndrome.
Langen et al. (2003) conducted an observational in Long QT syndrome (LQTS). Use of known genotype-phenotype correlations was evaluated on Success rate of mutation detection in the genes first elected for analysis. The study prospectively investigated whether using known genotype-phenotype correlations improves mutation detection success in LQTS index patients, but quantitative results were not reported.
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