Familial Hypercholesterolemia

Cardiovascular Genetics

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited disorder characterized by high cholesterol and an increased risk for heart disease.

The Familial Hypercholesterolemia Panel examines 5 genes associated with Familial Hypercholesterolemia (FH) which can clarify a diagnosis and allow for individualized disease management and treatment.

Price: $600.00

Test Details

Familial hypercholesterolemia (FH) is an inherited disorder characterized by high cholesterol and an increased risk for heart disease.

The Familial Hypercholesterolemia Panel examines 5 genes associated with Familial Hypercholesterolemia (FH) which can clarify a diagnosis and allow for individualized disease management and treatment.

4 Genes

APOB, LDLR, LDLRAP1, PCSK9

  • Dyslipidemia
    Familial
  • Hypercholesterolemia

Patients with a personal and/or family history suggestive of a FH. Red flags for FH can include, but are not limited to, high cholesterol levels, very high levels of low-density lipoprotein, and cardiovascular disease.

Patients identified with FH can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include combination medication therapy, low-fat diet, exercise, weight control and not smoking. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment
  • Next-Generation  Sequencing
  • Deletion/Duplication Analysis

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Buccal Swab

3 – 5 weeks

  1. Youngblom, E., Pariani, M., Knowles, J.W. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2016 Dec 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)