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Comprehensive Lipidemia Panel

A 27-gene panel for assessing hereditary lipidemia, powered by the Helix Exome+® platform for comprehensive lipid disorder evaluation.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

This panel evaluates 27 genes associated with hereditary lipidemia.

View a complete description of this panel
Sample negative report

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A relevant personal and/or family history suggestive of hereditary lipidemia.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with a variety of hereditary lipidemia conditions.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesABCA1: Evaluation of exon 40 will not be performed. SAR1B: Sensitivity in exon 4 may be reduced.Genomic buildGRCh38

Genes Tested

ABCA1
ABCG5
ABCG8
ALMS1
ANGPTL3
APOA1
APOA5
APOB
APOC2
CETP
CREB3L3
CYP27A1
GPD1
GPIHBP1
LCAT
LDLR
LDLRAP1
LIPA
LIPG
LMF1
LPL
LRP6
MTTP
PCSK9
PNPLA2

Showing 25 of 27 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Hereditary lipidemias encompass several genetic disorders affecting lipid metabolism. If left untreated, these conditions lead to premature cardiovascular disease and/or cardiovascular complications. Early detection of hereditary lipidemias allows modification of lifestyle and clinical management, which can prevent or delay these complications.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.