Cardiovascular

Family Hypercholesterolemia


Introduction: Familial hypercholesterolemia (FH) is a common genetic disorder that manifests from birth and causes an increase in plasmatic levels of LDL-cholesterol (c-LDL), xanthomas and its most important consequence is premature coronary heart disease (CHD). Its detection and early treatment reduces coronary morbidity and mortality. Despite the availability of effective treatment, HF is poorly diagnosed and treated. Although HF can be suspected with clinical criteria, the genetic diagnosis recommended by the current guidelines is the definitive one. About the exam: Study to detect the presence of variants in the LDLR, APOB, PCSK9, LDLR AP1 and APOE genes. All exonic regions of these genes and border intron regions are studied. It also includes the study of large rearrangements of the LDLR gene. These variants may be pathogenic, non-pathogenic or of uncertain significance. The presence of pathogenic variants in these genes is associated with Familial Hypercholesterolemia. Patients with Familial Hypercholesterolemia tend to have a dominant type of inheritance, so the presence of one pathogenic variant is necessary to confirm the Molecular Diagnosis. There are also more serious cases in which there are two pathogenic variants. Genes or alleles analized: LDLR, APOB, APOE, PCSK9, LDLR AP1 Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Familial Hypercholesterolemia - rearrangements


Introduction: Familial hypercholesterolemia (FH) is a common genetic disorder that manifests from birth and causes an increase in plasma levels of LDL-cholesterol (LDL-c), appearance of xanthomas and its most important consequence is premature coronary heart disease (CHD). Its detection and early treatment reduces coronary morbidity and mortality. Despite the availability of effective treatment, HF is poorly diagnosed and treated. Although HF can be suspected with clinical criteria, the genetic diagnosis recommended by the current guidelines is the definitive one. About the exam: Study to detect the presence of large deletions or duplications in the LDLR gene. This type of variants are pathogenic, which is why they are associated with the diagnosis of Familial Hypercholesterolemia. Genes or alleles analized: LDLR Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL In case you have any questions, get in touch.





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