Familial Hypercholesterolemia (FH) Panel
A 4-gene panel for evaluating hereditary familial hypercholesterolemia, powered by the Helix Exome+® platform for comprehensive lipid disorder assessment.
6-21 days
≤ 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.
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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
> 99%
> 99%
> 99%
> 99%
> 90%
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:...
GRCh38
Genes Tested
Showing 4 of 4 genes in this panel