Familial Hypercholesterolemia (FH) Panel
Use
This test is designed for individuals with clinical or suspected diagnosis of Familial Hypercholesterolemia (FH). It helps in identifying the genetic causes of FH, which is characterized by high cholesterol levels and increased risk of cardiovascular diseases. It is especially useful for adults with untreated high cholesterol levels, children with high cholesterol levels based on family history, and individuals with first-degree relatives who have developed premature cardiovascular disease.
Special Instructions
The test can be ordered for patients who fit the clinical criteria for FH and can be conducted on various specimen types depending on the chosen platform (Exome or Genome). Exome-wide CNV analysis can be added for an additional fee. STAT testing options are available for expedited results.
Limitations
The test may not detect all possible mutations associated with FH. Negative results do not rule out a genetic cause for FH. The detection of copy number variants (CNV) is subject to the limitations inherent in the exome or genome platform used. Results should be interpreted in the context of clinical and family history, and other available laboratory data.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided