A Service of the Hamilton Regional Laboratory
Laboratory Test Information
Committed to Quality
The HRLMP is committed to providing high quality laboratory results for our clients.
As one of the largest integrated laboratory medicine programs in Canada we strive to produce the right results the first time on every sample we receive.
Test Name:
Familial Hypercholesterolemia
Alternate Name(s): NGS, ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9, FH, familial variant
Requisition Form: Download requisition form for: R_FINAL_Familial Hypercholesterolemia Investigation_Feb2024.pdf
Specimen Requirement:

Specimen Handling Instructions:
Ship at room temperature. Refrigerate overnight if longer storage is unavoidable.
Turnaround Time: 6 weeks
Additional Information: The Familial Hypocholesteremia Next Generation Sequencing (NGS) Panel is available to patients who meet one or more of the following criteria*:


1. Confirmed FH disease-causing pathogenic/likely pathogenic variant in a close blood relative
2. High LDL-cholesterol level of = 8.5 mmol/L at any age
3. Untreated elevated LDL-cholesterol level (not due to secondary causes) * age dependent cut-offs and other minor criteria
4. Clinical judgement (criteria 1-3 not met, but suspicion remains) – details must be provided on the requisition/order


* Please refer to the requisition for additional details about criteria.



The Familial Hypocholesteremia NGS Panel targets the following genes (full gene testing):

LDLR, APOB, PCSK9, LDLRAP1, ABCG8, ABCG5, APOE, LIPA


If there is a known familial variant, the following is required to be included on the requisition/order:


1. Patient’s relationship to the proband
2. Variant information, including the gene, variant and reference genome transcript. Alternatively, a proband report with variant information will be accepted.
For any inquiries, please contact moleculargenetics@hhsc.ca.
Test was Last Updated: 2/9/2024
Testing Laboratory: Clinical Genetics
Testing Site: JHCC