Lipid inCode®

Lipid inCode® allows NGS-based genetic analysis for the diagnosis of familial hypercholesterolemia, in line with the "gold standard" recommendations of international experts.

7 genes involved in the following are analysed:

• Familial hypercholesterolemia: LDLR, APOB, PCSK9, APOE and STAP1 genes
• Autosomal recessive hypercholesterolemia: LDLRAP1 gene
• Lysosomal acid lipase deficiency: LIPA gene

In addition, other important aspects are also evaluated to guide and adjust the treatment of this pathology in each patient.

• Polygenic hypercholesterolemia: LDLc score (12 genetic variants)
• Genetic coronary risk: Cardio inCode Score (12 genetic variants)
• Predisposition to high plasma levels of LP(a) (2 genetic variants)
• Pharmacogenetics of response to statin therapy (3 variants)

Features

• Offers global assessment regarding the causes of HyperColesterolemia
• Enables further risk stratification of patients’ cardiovascuolar risk
• High data quality and robustness
• High sensitivity (≥ 99,9%)
• High specificity (≥ 99,9%)

This kit includes:

• Enrichment solution for a minimum of 16 determinations.
• Bioinformatics analysis to obtain genetic variants combining SAMTOOLS and a proprietary software (GendiCall) to identify possible causal genetic variants (SNPs, indels and CNVs in the case of LDLR)
• Full genetic report
• Technical support both for the implementation of the technique as well as for questions related to routine sample processing
• Direct support with an advisor at the optional level for questions related to the interpretation of the results or clinical issues