Primary Hypertriglyceridemia

Primary hypertriglyceridemias / Polygenic / Familial combined hyperlipidemia

Primary hypertriglyceridemias / Polygenic / Familial combined hyperlipidemia panel [47 genes]:

Includes genes associated with:

  • Primary hypertriglyceridemias (monogenic).
  • Familial hypercholesterolemia (main genes).
  • Combined hyperlipidemia/hipertriglyceridemia with polygenic etiology (markers).

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

Study requisition form
Informed consent
ADD1 ANGPTL3 APOA1 APOA4 APOA5 APOB APOBEC1 APOC2 APOC3 APOE
ATF6 BUD13 CERS4 CETP CILP2 CRABP2 FABP2 FOXC2 FTO GALNT2
GPD1 GPIHBP1 HNF4A KLHL8 LCAT LDLR LEP LEPR LIPC LMF1
LPL LRP6 MC4R MYLIP PCDH15 PCSK9 PNPLA2 PON1 PPARA PPARG
RXRG SLC25A40 TCF7L2 TNFRSF1B TRIB1 USF1 WWOX

Includes genes associated with:

  • Primary hypertriglyceridemias (monogenic).
  • Familial hypercholesterolemia (main genes).
  • Combined hyperlipidemia/hipertriglyceridemia with polygenic etiology (markers).

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.
  • Patients with plasma TG levels > 500 mg/dl (5.7 mmol/l).
  • Suspicion of primary monogenic dyslipidemia in patients diagnosed with combined hyperlipidemia.
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