Which genetic tests are used to screen for the syndrome of familial hypercholesterolemia (FH)?

Updated: Apr 09, 2021
  • Author: Nainesh K Gandhi, MD, MSE; Chief Editor: Keith K Vaux, MD  more...
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Some of the current genetic tests for dyslipidemias include Sanger sequencing, next-generation sequencing, genotyping, polygenic risk scores using single-nucleotide polymorphisms (SNPs), and copy number variation, as described below [43, 45, 38, 50, 46, 47] :

  • Sanger sequencing is used to examine small DNA segments, such as a single gene or single exon, to detect nucleotide change.
  • Next-generation sequencing is used to sequence a targeted selection of prespecified genes, all expressed protein-coding sequences (whole exome sequencing), and all coding and non-coding regions constituting the entire genome (whole genome sequencing).
  • Genotyping is used to directly assay specific known rare variants or common SNPs.
  • Polygenic risk scores using SNPs quantify the cumulative effect of SNPs to determine the expected effect of each individual SNP in a given patient.
  • Copy number variation refers to a specific quantitative type of genetic variant such as large-scale duplications or deletions that affect a whole exon, gene, or even several genes.


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