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Alternate Name: |
NGS, ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9, FH, familial variant
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Specimen Type: |
Minimum 4mL of peripheral blood in lavender EDTA tube.
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Turnaround Time: |
8 weeks
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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.
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Test was Last Updated: |
4/21/2026
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Testing Laboratory: |
Clinical Genetics
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Testing Site: |
JHCC
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LRC Specimen Requirement: |
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Ship at room temperature. Refrigerate overnight if longer storage is unavoidable.
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