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"Thanks to new Multiplicom test kits physicians are able to identify all the genetic mutations of a condition at once, and use this information to initiate the right - personalized - treatment.”

Poster Abstract: Genetic testing of Familial Hypercholesterolemia: monogenic form and polygenic contribution to cardiovascular risk

P. Couvert, Ph. Giral1, P-Y Boelle, V. Carreau, S Béliard, JM. Lacorte, Ph Lesnik, F. Paillard, R. Valéro, A. Rotthier, E. Bruckert, A. Carrié


Cascade screening of Familial Hypercholesterolemia (FH) using genetic testing has been recommended (Nordestgaard et al.) but polygenic origin could reduce the efficiency of such approach. A polyGenic Score (GeneScore) has been described helping to identify polygenic form of FH (Talmud et al.). The authors have developed a genetic test combining detection of monogenic form as well as polygenic contribution in FH and cardiovascular risk.


1140 patients with a diagnosis of “possible FH” (Dutch Lipid Clinic Network) were analyzed in routine genetic testing using massive pa rallel sequencing (ADH MASTR v2, Multiplicom NV) in order to (i) detect mutation in coding regions of LDLR, PCSK9, APOE, and a specific region of APOB and to (ii) genotype the 12 SNPs used for the GeneScore (GS) calculation.


The authors have developed an efficient genetic test allowing the detection of monogenic and polygenic forms of FH. In addition, calcula tion of the GeneScore in mutated patients may be used to identify subjects at higher cardiovascular risk.
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