Dyslipidemias / Early Atherosclerosis Panel

Dyslipidemias / Early Atherosclerosis General 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
ABCA1 ABCG1 ABCG5 ABCG8 ADD1 AGPAT2 AKT2 ANGPTL3 ANGPTL4 APOA1
APOA2 APOA4 APOA5 APOB APOBEC1 APOC2 APOC3 APOE APPL1 ATF6
BLK BSCL2 BUD13 CAV1 CAVIN1 CEL CELSR2 CERS4 CETP CIDEC
CILP2 CRABP2 EIF2AK3 EPHX2 FABP2 FOXC2 FOXP3 FTO GALNT2 GATA6
GCK GLIS3 GPD1 GPIHBP1 HNF1A HNF1B HNF4A IER3IP1 INS INSIG2
INSR KCNJ11 KLF11 KLHL8 LCAT LDLR LDLRAP1 LEP LEPR LIPA
LIPC LIPE LIPG LMF1 LMNA LPA LPL LRP6 MAFB MC4R
MEF2A MTTP MYLIP NEUROD1 NEUROG3 PAX4 PCDH15 PCSK9 PDX1 PLIN1
PNPLA2 PNPLA5 PON1 PPARA PPARG PSMB8 PTF1A RFX6 RXRG SAR1B
SCARB1 SLC25A40 SLC2A2 SORT1 STAP1 TBC1D4 TCF7L2 TNFRSF1B TRIB1 USF1
WFS1 WWOX ZMPSTE24
Dyslipidemias / Early Atherosclerosis General 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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