Familial Hypercholesterolemia (FH) Panel
Also known as: HeFH, HoFH, ApoB, LDLR, PCSK9
Use
This test is used to detect point mutations, deletions, and duplications in the LDLR, APOB, and PCSK9 genes associated with Familial Hypercholesterolemia (FH). It is appropriate for individuals with a personal history of hypercholesterolemia, uncertain FH diagnosis, early cardiovascular disease, or characteristic lipid deposits (tendon xanthoma or corneal arcus). Genetic counseling and informed consent are strongly recommended, and in family cases testing the earliest affected individual first is advised.
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
NGS
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
EDTA (lavender-top) or ACD (yellow-top) tube
Storage Instructions
Store and ship at room temperature immediately. Do not freeze.
Causes for Rejection
Gross hemolysis, Clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant