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Familial Hypercholesterolemia (FH) Panel

A 4-gene panel for evaluating hereditary familial hypercholesterolemia, powered by the Helix Exome+® platform for comprehensive lipid disorder assessment.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

Dyslipidemias are a broad spectrum of disorders that affect blood (serum) levels of cholesterol and/or triglycerides. There are many different causes of dyslipidemias, which may range from environmental exposures to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary dyslipidemia, diagnostic genetic testing may be ordered.

This panel evaluates 4 genes that have an established, primary association with familial hypercholesterolemia.

View the complete description of this panel

Have Questions?

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

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal and/or family history suggestive of familial hypercholesterolemia. Establishing a diagnosis of familial hypercholesterolemia.

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 hereditary forms of Familial Hypercholesterolemia.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesLDLR: Evaluation of Chr19: 11117009 (c.1845+11C>G), Chr19: 11089400 (c.-149C>A), Chr19: 11089414 (c.-135C>G), Chr19: 11089413 (c.-136C>T), and Chr19: 11110640 (c.941-12G>A) will be performed. LDLRAP1:... Genomic buildGRCh38

Genes Tested

APOB
LDLR
LDLRAP1
PCSK9

Showing 4 of 4 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.

A common dyslipidemia with known hereditary causes is familial hypercholesterolemia (FH). FH is characterized by elevated serum low-density lipoprotein cholesterol (LDL-C) which form plaques in the aorta and coronary arteries.

Hereditary forms of FH may follow autosomal dominant or autosomal recessive inheritance patterns.Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

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.