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  • Test code: 53698
  • 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
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Invitae Comprehensive Lipidemia Panel

Test description

This test provides a comprehensive analysis of genes associated with a variety of inherited lipidemias. Lipidemias are characterized by abnormal levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and/or triglycerides. Abnormal lipid levels increase the risk for cardiovascular events and can cause additional clinical complications.

Early and appropriate medical intervention can reduce the risk of cardiovascular events. At-risk relatives could be identified and preventive therapy could be initiated. Given the clinical overlap between different lipidemias, comprehensive testing enables a more efficient evaluation of multiple disorders based on a single indication.

Variants in CETP and LIPG are associated with elevated HDL, which are reported as “benign, reportable variants.” Benign, reportable variants may explain an elevated HDL cholesterol level on a lipid profile but do not cause symptoms or a known risk for cardiovascular disease. Benign, reportable variants cannot be ordered for family variant testing, but will be included in the test report when present if full gene testing for CETP or LIPG is requested.

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Primary panel (25 genes)

ABCA1 ABCG5 ABCG8 ANGPTL3 APOA1 APOA5 APOB APOC2 CETP CREB3L3 CYP27A1 GPD1 GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPG LMF1 LPL LRP6 MTTP PCSK9 PNPLA2 SAR1B

Add-on Preliminary-evidence Genes for Comprehensive Lipidemia (11 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

APOA4 APOC3 CYP7A1 GALNT2 GCKR LIPC LIPI MYLIP PLTP SCARB1 ZHX3

  • Abetalipoproteinemia
  • Apolipoprotein A-I (apo A-I) deficiency
  • Cerebrotendinous xanthomatosis
  • Chylomicron retention disease (CMRD)/Anderson disease
  • Familial chylomicronemia syndrome (FCS)
  • Familial hypercholesterolemia (FH)
  • Familial hypertriglyceridemia
  • Familial hypobetalipoproteinemia
  • LCAT deficiency/Fish-eye disease/Norum disease
  • Lysosomal acid lipase (LAL) deficiency
  • Neutral lipid storage disease with myopathy (NLSDM)
  • Sitosterolemia
  • Tangier Disease
  • Transient infantile hypertriglyceridemia
  • Hyperalphalipoproteinemia

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

Lipidemias are inherited in both autosomal dominant and autosomal recessive patterns and may be affected by other health conditions or lifestyle factors.

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
ABCA1 NM_005502.3
ABCG5 NM_022436.2
ABCG8 NM_022437.2
ANGPTL3 NM_014495.3
APOA1 NM_000039.2
APOA4 NM_000482.3
APOA5 NM_052968.4
APOB NM_000384.2
APOC2 NM_000483.4
APOC3 NM_000040.1
CETP NM_000078.2
CREB3L3 NM_032607.2
CYP27A1 NM_000784.3
CYP7A1 NM_000780.3
GALNT2 NM_004481.4
GCKR NM_001486.3
GPD1 NM_005276.3
GPIHBP1 NM_178172.5
LCAT NM_000229.1
LDLR NM_000527.4
LDLRAP1 NM_015627.2
LIPA NM_000235.3
LIPC NM_000236.2
LIPG NM_006033.3
LIPI NM_198996.3
LMF1 NM_022773.2
LPL NM_000237.2
LRP6 NM_002336.2
MTTP NM_000253.3
MYLIP NM_013262.3
PCSK9 NM_174936.3
PLTP NM_006227.3
PNPLA2 NM_020376.3
SAR1B* NM_001033503.2
SCARB1 NM_005505.4
ZHX3 NM_015035.3

SAR1B: Deletion/duplication analysis is not offered for exon 5.