Familial Hypercholesterolemia (FH) Single Site
Also known as: HeFH, HoFH, ApoB, LDLR, PCSK9
Use
This test is used to determine whether a patient has a specific familial variant at a single site within the LDLR, APOB, or PCSK9 genes, which are associated with familial hypercholesterolemia (FH). A report documenting the variant from an affected relative is required. Detection includes point mutations as well as deletions/duplications based on that familial result; a positive result (pathogenic or likely pathogenic variant) indicates FH risk, while a negative result means the familial variant was not found and risk depends on clinical and family context. Genetic counseling—informed consent prior to testing—is strongly recommended.
Special Instructions
Not provided.
Limitations
Limited to detecting the specific known familial variant; not suitable for unidentified variants. Negative result does not rule out FH if other variants exist; analytic sensitivity for variant detection is approximately 99%; gene dosage (copy number) assessed via bioinformatic NGS read analysis and confirmed as needed by custom targeted microarray.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant