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Lipid inCode® is a genetic test for diagnosis of familial hypercholesterolaemia (FH). The genetic study of FH is the only definitive method by which to confirm the disease. The confirmation of FH in a patient enables analysis of at-risk family members and identification of other potentially affected individuals who have not been detected yet. The analysis also provides information of major utility for the clinical and therapeutic management of patients: pharmacogenetics of statins, predisposition to high levels of Lp(a), analysis of polygenic hypercholesterolemia (LDLc score) and analysis of the genetic load of coronary risk (CiC score).
GENES/VARIANTS ANALYZED AND ANALYSIS TECHNIQUE
The test analyzes the seven genes commonly involved in familial hypercholesterolaemia (LDLR, APOB, PCSK9, APOE and STAP1) including autosomal recessive hypercholesterolemia (LDLRAP1) and phenocopies (lysosomal acid lipase deficiency – LIPA) through the technique of Next Generation Sequencing or NGS. The promoter and coding sequences of DNA, and exon-intron junction regions of the seven genes are analyzed, in addition to copy number variations, or CNV’s, such as deletions/duplications in the LDLR gene. The CNV-type variants are confirmed by the MLPA technique, and the others by Sanger technology. The test assesses 28 genetic variants of the Single Nucleotide Polymorphism (SNPs) type, through NGS, which is very useful in the clinical and therapeutic management of patients. The analysis of family members with risk of mutations previously identified in the family is performed by Sanger technology.
PROFILE OF PATIENTS
- Patients with symptoms of FH.
- Patients with resistant or uncontrolled hypercholesterolemia.
- Patients with myocardial infarction and other arteriosclerotic vascular diseases at young ages (men <55 years and women <60 years)
- Relatives of patients with FH and positive genetic studies (familial cascade screening).
Lipid inCode® is the only available genetic test for the diagnosis of FH that is aligned with the recommendations of the FH Expert Panel from the Journal of the American College of Cardiology (JACC 2018). Furthermore, the test provides information on the clinic assessment and genotype-phenotype correlation of the detected variants (epidemiological data of the SAFEHEART registry with follow-up on more than 5,000 patients with genetic diagnosis of FH, and an internal registry of described genetic variants, with information on over 2,200 variants).
- 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
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