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LIPID inCode® is a genetic test to explain high LDL and assess cardiovascular risk – beyond your typical monogenic Familial Hypercholesterolemia (FH) test.

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LIPID inCode® is a genetic test to explain high LDL and assess cardiovascular risk – beyond your typical monogenic Familial Hypercholesterolemia (FH) test.

 

6-gene sequencing panel
for FH and related phenotypes

GENES ANALYZED

LIPID inCODE MONOGENIC ANALYSIS

Full sequencing analysis via Next Generation Sequencing (NGS) of 6 genes: LDLR, APOB, PCSK9, APOE, LDLRAP1, LIPA Includes sequencing of promoter sequences, coding regions, and exon-intron junction regions for all 6 genes. Includes Copy Number Variation (CNV) analysis for LDLR. Monogenic variants detected via NGS are confirmed via appropriate orthogonal methodology (Sanger sequencing or MLPA).

SUPPLEMENTAL / OPTIONAL INFORMATION

  • Polygenic Risk Score for High LDL
  • Polygenic Risk Score for Coronary Artery Disease

Polygenic Risk Score for High LDL assesses 12 Single Nucleotide Polymorphisms (SNPs). Polygenic Risk Score for CAD assesses 12 SNPs (all independent from PRS for High LDL).

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Polygenic Risk Score for High LDL

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Polygenic Risk Score for Coronary Artery Disease

Polygenic Risk Score for High LDL assesses 12 Single Nucleotide Polymorphisms (SNPs). Polygenic Risk Score for CAD assesses 12 SNPs (all independent from PRS for High LDL).

CLINICAL UTILITY
  • Establish or molecularly confirm an FH diagnosis
  • Facilitate cardiovascular risk assessment and inform prognosis of individuals with FH diagnosis
  • Facilitate risk assessment for family members, including allowing cascade genetic testing to help identify individuals with unrecognized FH
  • Inform recurrence risk assessment for family planning
  • Identify polygenic contribution to High LDL in the absence of a monogenic explanation and/or in addition to a monogenic explanation
  • Identify polygenic contribution to CAD risk, independent from CAD risk due to high LDL, to further inform an individual’s risk assessment
INDICATIONS FOR TESTING
  • Individuals with clinical suspicion for FH
  • Individuals with resistant or uncontrolled hypercholesterolemia
  • Individuals with myocardial infarction and other arteriosclerotic vascular diseases at young ages (men <55 years and women <65 years)
  • Individuals with a family history of FH and positive genetic studies (familial cascade screening)
ORDERING DETAILS

Test Requisition Form (TRF)

Turnaround Time:      3-4 weeks*

Specimen Type : Buccal (cheek) swabs or 2-5mL whole blood in EDTA tube (Lavender top) are accepted

*TAT listed is an average and includes the time from when the sample arrives in the laboratory until the completed results report is sent to the ordering provider

ADDITIONAL INFORMATION

APOE is analyzed as part of the LIPID inCode test – is Alzheimer’s risk information included in the result report?

No. Monogenic variants in the APOE gene which are pathogenic, likely pathogenic, or variants of unknown clinical significance for FH or other dyslipidemias will be reported in the LIPID inCode report. SNPs in the APOE gene are also evaluated as part of the polygenic risk score for high LDL. The results of the polygenic risk score for high LDL are reported as both a numeric value and a decile, and the specific genotypes of the 12 SNPs analyzed are not listed in the patient’s result report. A person’s APOEallele status (E2, E3, or E4) is what is typically associated with dementia/Alzheimer’s risk. APOE allele status is not reported in LIPID inCode test results, as the objective of the test is related strictly to lipidemias and CAD risk.

How is the Polygenic Risk Score for High LDL reported?

Results classify a person’s risk as low, intermediate, or high according to deciles. Low risk = results falling in decile 1 or 2. Intermediate risk = results falling in deciles 3-8. High risk = results falling in deciles 9 or 10.

 

Has the Polygenic Risk Score for High LDL been validated?

Yes. The Polygenic Risk Score for High LDL included on the LIPID inCode test has been validated and widely published on.

How is the Polygenic Risk Score for CAD reported?

Results classify a person’s risk as low, intermediate, or high according to quintiles. Low risk = results falling in quintile 1. Intermediate risk results falling in quintiles 2-4. High risk = results falling into quintile 5.

Has the Polygenic Risk Score for CAD been validated?

Yes. The Polygenic Risk Score for CAD has been validated in more than 80,000 individuals of different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians). It has been shown to be independent of classical, clinical risk factors for CAD and contributes approximately 50% of the risk for a cardiovascular event.

Is there any overlap between the Polygenic Risk Score for High LDL and the Polygenic Risk Score for CAD?

No. There is no overlap between the two groups of SNPs used in the algorithm to calculate the two different Polygenic Risk Scores. The Polygenic Risk Score for CAD (also available as an stand-alone test, CARDIO inCode-Score) is assessed completely independently of hyperlipidemia. The resulting risk has also been shown to be independent of classical cardiovascular risk factors.

BIBLIOGRAPHY
  • Omlastroni E et al. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations. J Am Heart Assoc. 2022;11:e023668. DOI: 10.1161/JAHA.121.023668
  • Sabatel-Pérez, F. et al.Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data. J. Clin. Med. 2021, 10, 749
  • E.N. Gutiérrez-Cortizo, M.J. Romero-Jiménez, M.E. Mansilla Rodríguez et al., Detección de hipercolesterolemia familiar a través de datos analíticos centralizados. Programa DETECTA HF HUELVA, Endocrinología, Diabetes y Nutrición
  • Roa Garrido J et al. Particularidades genéticas y bioquímicas de la hipercolesterolemia familiar en el suroeste de la Península Ibérica. Clinica e Investigacion en Arteriosclerosis 33 (2021) 62-69
  • Amor-Salamanca A et al. Genetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome. J Am Coll Cardiol 2017;70:1732-40
  • Sturm AC et al. Clinical genetic testing for familial hypercholesterolemia. JACC Scientific Expert Panel. JACC 2018;72(6):662-680