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
ADD1ANGPTL3APOA1APOA4APOA5APOBAPOBEC1APOC2APOC3APOE
ATF6BUD13CERS4CETPCILP2CRABP2FABP2FOXC2FTOGALNT2
GPD1GPIHBP1HNF4AKLHL8LCATLDLRLEPLEPRLIPCLMF1
LPLLRP6MC4RMYLIPPCDH15PCSK9PNPLA2PON1PPARAPPARG
RXRGSLC25A40TCF7L2TNFRSF1BTRIB1USF1WWOX

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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