FHNext®
Use
FHNext is a 4-gene panel designed to diagnose familial hypercholesterolemia (FH), an inherited disorder marked by high cholesterol. The test helps confirm a diagnosis and guide individualized treatment, which may prevent coronary artery disease. It's used to assess genetic mutations, providing risk assessments for patients and their families, who may also be at risk. Familiarity with FH can help tailor medical management to prevent future cardiac events.
Special Instructions
Not provided.
Limitations
The FHNext panel aims to detect more than 99% of mutations in the test's targeted genes. However, some variants in regions with pseudogene interference or low-quality variant allele frequencies may require verification by Sanger sequencing. Gross deletion/duplication analysis outcomes may vary across genes due to resolution issues at the exon level.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Blood is the primary specimen type accepted for this test.
Other tests from different labs that may be relevant