Familial hypercholesterolemia is an inherited disorder characterized by high cholesterol and an increased risk for heart disease. FHNext is a 4-gene panel that analyzes genes associated with familial hypercholesterolemia, clarifying a diagnosis and allow for individualized disease management and treatment.
| Test Code | 8680 |
| Turnaround Time (TAT) | 14-21 days |
| Number of Genes | 4 |
for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.
Order NowKnowing if your patient has Familial Hypercholesterolemia can help you determine their future coronary artery disease risk and guide your medical management recommendations. Key benefits include:
*Pre-treatment LDL measurements
The FHNext test is designed and validated to be capable of detecting >99% of described mutations in the genes represented on this test (analytical sensitivity). The clinical sensitivity of the FHNext test may vary widely according to the specific clinical and family history.
The FHNext test is an analysis of 4 genes associated with familial hypercholesterolemia. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed for all genes using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. Exon-level resolution may not be achieved for every gene.
1. Sturm, Amy C., et al., Clinical Genetic Testing for Familial Hypercholesterolemia. Journal of the American College of Cardiology. 72 (2018) 662-680.