Hypolipidemias

Hypolipidemias panel [14 genes]:

This panel includes a group of genes associated with a marked decrease in the levels of major lipoproteins.

Alterations secondary to mutations in these genes can have a wide range of clinical effects—they might contribute to predisposition to ischemic heart disease (some genes associated with low HDL) or even have a protective cardiovascular effect (genes associated with LDL decrease), while others may be associated with nutritional diseases (malabsorption, growth disorders, and vitamin deficiency), liver disease (fatty liver), etc.

The coexistence of some variants in these genes with mutations that are responsible for other genetic hyperlipidemias can lead to significant phenotypic variability in some families, thus affecting individual risk in carriers.

Study requisition form
Informed consent
ABCA1 ABCG1 ANGPTL3 ANGPTL4 APOA1 APOA2 APOB APOC3 LCAT MTTP
MYLIP PCSK9 PLTP SAR1B

This panel includes a group of genes associated with a marked decrease in the levels of major lipoproteins.

Alterations secondary to mutations in these genes can have a wide range of clinical effects—they might contribute to predisposition to ischemic heart disease (some genes associated with low HDL) or even have a protective cardiovascular effect (genes associated with LDL decrease), while others may be associated with nutritional diseases (malabsorption, growth disorders, and vitamin deficiency), liver disease (fatty liver), etc.

The coexistence of some variants in these genes with mutations that are responsible for other genetic hyperlipidemias can lead to significant phenotypic variability in some families, thus affecting individual risk in carriers.

Study requisition form
Informed consent
ABCA1 ABCG1 ANGPTL3 ANGPTL4
APOA1 APOA2 APOB APOC3
LCAT MTTP MYLIP PCSK9
PLTP SAR1B
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.

Patients meeting any of the following criteria:

  • Sharp decrease in levels of major lipoproteins.
  • Absence of sharp decrease in ApoB levels.
  • Absence of chylomicrons on postprandial test.
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