• Test code: 02401
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Familial Hypercholesterolemia Panel

Test description

This test provides a comprehensive analysis of the genes associated with familial hypercholesterolemia (FH).

Individuals with unexplained elevated cholesterol or early cardiovascular disease may benefit from the confirmation of an FH diagnosis through genetic testing to initiate appropriate medical therapy and enable more targeted therapy. Early and appropriate medical intervention can reduce the risk of cardiovascular events for individuals. At-risk relatives could be identified and preventive therapy could be initiated. The Centers for Disease Control (CDC) Office of Public Health Genomics has categorized genetic testing for FH as a “Tier 1” classification, which indicates that there is evidence to support the use of this genetic test in medical practice.

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Primary panel (4 genes)

Alternative tests to consider

  • Familial hypercholesterolemia (FH)

To view the complete clinical description of this panel, click here.

Familial hypercholesterolemia (FH) is inherited in both autosomal dominant and autosomal recessive patterns.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
APOB NM_000384.2
LDLR NM_000527.4
LDLRAP1 NM_015627.2
PCSK9 NM_174936.3