Invitae Familial Hypercholesterolemia Panel
Use
This test provides a comprehensive analysis of the genes associated with familial hypercholesterolemia (FH). It is useful for individuals with unexplained elevated cholesterol or early cardiovascular disease. Genetic testing for FH can initiate appropriate medical therapy and enable more targeted therapy. Early intervention reduces cardiovascular risk and helps identify at-risk relatives for preventive therapy.
Special Instructions
The Centers for Disease Control (CDC) Office of Public Health Genomics categorizes genetic testing for FH as a 'Tier 1' classification, indicating evidence to support its use in medical practice.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Some variants, like structural rearrangements or those in complex sequences, may not be detected. Rarely, single-exon copy number events may not be analyzed due to inherent sequence properties. Certain details, like mosaicism, cannot always be fully resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)