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
Requery (SOQO)
≤ 5 days
Genes Tested
4
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.
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Contact our clinical team to order this panel or learn more.
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 notes
LDLR: 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: Evaluation of Chr1: 25564565 (c748-608G>A) will be performed.
Genomic build
GRCh38
Genes Tested
4 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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.
Ready to order this test?
Contact our clinical team to order the Familial Hypercholesterolemia (FH) Panel for your patients.