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patients must have a nonsense mutation in the dystrophin gene as part of their underlying disease state, as determined by genetic testing.
il-pazjenti għandu jkollhom mutazzjoni nonsense fil-ġene ta’ dystrophin bħala parti mill-istat tal- marda diġà eżistenti tagħhom, kif iddeterminat mill-ittestjar ġenetiku.
(gg) development and quality assurance of health testing and screening practices including genetic testing and cancer screening.
(gg) l-iżvilupp u l-assigurazzjoni tal-kwalità tal-ittestjar tas-saħħa u prattiki ta’ skrinjar inkluż l-ittestjar ġenetiku u skrinjar tal-kanċer.
the presence of a nonsense mutation in the dystrophin gene should be determined by genetic testing (see section 4.4).
il-preżenza ta’ mutazzjoni nonsense fil-ġene ta’ dystrophin għandha tiġi ddeterminata minn ittestjar ġenetiku (ara sezzjoni 4.4).
glybera is only for patients whose disease has been confirmed by appropriate genetic testing and who have detectable levels of the lipoprotein lipase enzyme in their blood.
glybera jintuża biss għall-pazjenti li l-marda tagħhom tkun ġiet ikkonfermata permezz ta’ ttestjar ġenetiku xieraq u li jkollhom livelli traċċabbli tal-enzim lipoproteina lipażi fid-demm tagħhom.