Dyslipidemias / Early Atherosclerosis Global Panel

Dyslipidemias / Early Atherosclerosis Global panel
[104 genes + Pharmacogenetics (lipid-lowering drugs)
+ Genetic risk for coronary artery disease]

It includes genes associated with the following phenotypes:

  • Familial hypercholesterolemia and its differential diagnoses.
  • Primary hypertriglyceridemia or combined hyperlipidemia.
  • Hypolipidemia and other phenotypes that can be considered to modify and/or protect against cardiovascular disease.
  • Hyperalphalipoproteinemia.
  • Lipodystrophy.
  • Maturity-onset diabetes of the young (MODY).

It allows assessing the potential adverse effects of conventional lipid-lowering treatments (statins and fibrates). It includes variants in 49 genes with pharmacogenetic relevance.

It allows for an evaluation of genetic susceptibility to coronary artery disease [50 variants].

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form
Informed consent
ABCA1ABCG1ABCG5ABCG8ADD1AGPAT2AKT2ANGPTL3ANGPTL4APOA1
APOA2APOA4APOA5APOBAPOBEC1APOC2APOC3APOEAPPL1ATF6
BLKBSCL2BUD13CAV1CAVIN1CELCELSR2CERS4CETPCIDEC
CILP2CRABP2EIF2AK3EPHX2FABP2FOXC2FOXP3FTOGALNT2GATA6
GCKGLIS3GPD1GPIHBP1HNF1AHNF1BHNF4AIER3IP1INSINSIG2
INSRKCNJ11KLF11KLHL8LCATLDLRLDLRAP1LEPLEPRLIPA
LIPCLIPELIPGLMF1LMNALPALPLLRP6MAFBMC4R
MEF2AMTTPMYLIPNEUROD1NEUROG3PAX4PCDH15PCSK9PDX1PLIN1
PNPLA2PNPLA5PON1PPARAPPARGPSMB8PTF1ARFX6RXRGSAR1B
SCARB1SLC25A40SLC2A2SORT1STAP1TBC1D4TCF7L2TNFRSF1BTRIB1USF1
WFS1WWOXZMPSTE24
Dyslipidemias / Early Atherosclerosis Global Panel
[104 genes + Pharmacogenetics (lipid-lowering drugs) + Genetic risk for coronary artery disease]

It includes genes associated with the following phenotypes:

  • Familial hypercholesterolemia and its differential diagnoses.
  • Primary hypertriglyceridemia or combined hyperlipidemia.
  • Hypolipidemia and other phenotypes that can be considered to modify and/or protect against cardiovascular disease.
  • Hyperalphalipoproteinemia.
  • Lipodystrophy.
  • Maturity-onset diabetes of the young (MODY).

It allows assessing the potential adverse effects of conventional lipid-lowering treatments (statins and fibrates). It includes variants in 49 genes with pharmacogenetic relevance.

It allows for an evaluation of genetic susceptibility to coronary artery disease [50 variants].

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

It includes genes associated with the following phenotypes:

  • Familial hypercholesterolemia and its differential diagnoses.
  • Primary hypertriglyceridemia or combined hyperlipidemia.
  • Hypolipidemia and other phenotypes that can be considered to modify and/or protect against cardiovascular disease.
  • Hyperalphalipoproteinemia.
  • Lipodystrophy.
  • Maturity-onset diabetes of the young (MODY).
  • Stone NJ, et al. American College of Cardiology/American Heart Association Task Force on Practice Guidelines. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: J Am Coll Cardiol. 2014 Jul 1;63 (25 Pt B):2889-934. (doi: 10.1016/j.jacc.2013.11.002. Epub 2013 Nov 12).
  • Hopkins PN, et al. National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3 Suppl):S9-17. (doi: 10.1016/j.jacl.2011.03.452. Epub 2011 Apr 3).
  • Genest J, et al. Canadian Cardiovascular Society position statement on familial hypercholesterolemia. Can J Cardiol. 2014 Dec;30(12):1471-81. (doi: 10.1016/j.cjca.2014.09.028. Epub 2014 Oct 2).
  • Identification and management of familial hypercholesterolaemia. NICE clinical guideline 71.
  • The Cardiac Society of Australia and New Zealand. Guidelines for the Diagnosis and Management of Familial Hypercholesterolaemia.
  • Mata P, Alonso R, Ruiz A, Gonzalez-Juanatey JR, Badimón L, Díaz-Díaz JL, Muñoz MT, Muñiz O, Galve E, Irigoyen L, et al. Diagnóstico y tratamiento de la hipercolesterolemia familiar en España: documento de consenso. Atención Primaria, Volume 47, Issue 1, Pages 56-65.
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