OBJECTIVES: The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene. DESIGN AND METHODS: DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform. Results obtained were confirmed by DNA sequencing and MLPA analysis by two other, independent laboratories. RESULTS: Of 808 patients tested, Lipochip detected a mutation in 66% of the cases and of these 78% were detected by the micro array. A specificity of 99.5% at a sensitivity of 99.8% was reached. A positive test result could be reported within 22 days after start of analysis. The total average screening costs of $350 per case were significantly lower compared to other existing screening programs. CONCLUSION: Lipochip provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.
OBJECTIVES: The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene. DESIGN AND METHODS: DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform. Results obtained were confirmed by DNA sequencing and MLPA analysis by two other, independent laboratories. RESULTS: Of 808 patients tested, Lipochip detected a mutation in 66% of the cases and of these 78% were detected by the micro array. A specificity of 99.5% at a sensitivity of 99.8% was reached. A positive test result could be reported within 22 days after start of analysis. The total average screening costs of $350 per case were significantly lower compared to other existing screening programs. CONCLUSION: Lipochip provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.
Authors: Nelva Mata; Rodrigo Alonso; Lina Badimón; Teresa Padró; Francisco Fuentes; Ovidio Muñiz; Francisco Perez-Jiménez; José López-Miranda; Jose L Díaz; Jose I Vidal; A Barba; Mar Piedecausa; Juan F Sanchez; Luis Irigoyen; Eliseo Guallar; José M Ordovas; Pedro Mata Journal: Lipids Health Dis Date: 2011-06-10 Impact factor: 3.876
Authors: Rosario López-Rodríguez; Marta Del Pozo-Valero; Marta Corton; Pablo Minguez; Javier Ruiz-Hornillos; María Elena Pérez-Tomás; María Barreda-Sánchez; Esther Mancebo; Cristina Villaverde; Gonzalo Núñez-Moreno; Raquel Romero; Estela Paz-Artal; Encarna Guillén-Navarro; Berta Almoguera; Carmen Ayuso Journal: Sci Rep Date: 2022-06-20 Impact factor: 4.996
Authors: Khalid K Alharbi; Tarek S Kashour; Wejdan Al-Hussaini; May Salem Al-Nbaheen; Sarar Mohamed; Rana M W Hasanato; Waleed Tamimi; Mohammed Yahya Al-Naami; Imran Ali Khan Journal: Lipids Health Dis Date: 2013-12-01 Impact factor: 3.876
Authors: Rafael Escate; Teresa Padro; Maria Borrell-Pages; Rosa Suades; Rosa Aledo; Pedro Mata; Lina Badimon Journal: J Cell Mol Med Date: 2016-09-29 Impact factor: 5.310