Key result
Genetic testing within the Italian LIPIGEN network yielded a mutation detection rate of 92.0% in patients with a Dutch Lipid Clinic Network score ≥6.
Observational (n=3,480)
Yes
The LIPIGEN network successfully facilitated genetic diagnosis of familial hypercholesterolemia in Italy, achieving a 92% mutation detection rate in patients with a high clinical probability.
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Supports targeted FH genetic testing in high-probability patients; leaves open generalizability beyond the LIPIGEN network.
Cefalù et al. (2017) conducted an observational in Familial hypercholesterolemia (n=3,480). Genetic testing was evaluated on Mutation detection rate in patients with DLCN score ≥6. Genetic testing within the Italian LIPIGEN network yielded a mutation detection rate of 92.0% in patients with a Dutch Lipid Clinic Network score ≥6.
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