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Biochemistry


Full details for "Genetic Test for Familial Hypercholesterolaemia".  

Name

 Genetic Test for Familial Hypercholesterolaemia

Alternative name/Profile

 FH, LDLR, APOB, Familial Defective Apolipoprotein B, FDB, hyperlipidaemia, hyperlipidaemia, hypercholesterolaemia, PCSK9,

Department

 Biochemistry

Investigation

 Familial Hypercholesterolaemia (FH) is the most encountered autosomal dominant genetic disorder with a prevalence approaching 1 in 250 of the population. It is primarily characterised by a perpetually elevated LDL Cholesterol level, which predisposes those affected to premature-onset cardiovascular disease (CVD), mainly as coronary heart disease (CHD).

Specimen type

 Whole Blood - EDTA

Sample type

 EDTA 3 ml

Sample container & volume

 EDTA 3 ml

Frequency of analysis

 As required

Turnaround time

 60 days

Availability

 SPECIALISED GENETIC TESTING Specialised genetic requests are not available to primary care physicians. Specialised genetic requests are available to external hospitals and internal (SJH) hospital only, under the direction of a hospital Consultant. External requests must be discussed with the SJH Biochemistry clinical team prior to sending to the laboratory. Refer to contact details below:

Notes
  • This testing is for disease-causing variants performing a full genetic scan of exonic regions, an analysis of copy number variations (CNV), including large single and multi-exon gene deletions/duplications in the LDLR gene, and a screen for the two specific variants APOB10580G>A, p.(R3527Q) and PSCK9 c.1120G>T, p.(D374Y).
  • Further testing for genetic variants in other genes, which have also been strongly linked with causing FH in rarer circumstances, may be performed depending on an overall assessment of the clinical and biochemical phenotype, and the initial genetic test results. In addition, testing for an established LDL-Cholesterol Genetic Risk Score (GRS), may be undertaken in some cases, such variants being associated with an increased likelihood of an FH-like Clinical Phenotype (FH-phenocopy) and/or polygenic hypercholesterolaemia.

Contact laboratory for further information.

Referred to: Biochemical Genetics Laboratory, Biochemistry Department, Central Pathology Laboratory, St. James's Hospital. 

Contact number for queries:

(01) 416 2054, biogeneticreports@stjames.ie.

Consultant Chemical Pathologist: vcrowley@stjames.ie
Specialist Registrar: (01) 416 2047
SHO: (01) 410 3875

Related links

Familial Hypercholesterolemia Genetic Request and Consent Form must be completed

This form can be found by clicking on:

“GP & External Request Forms” on the list on the right of this page

 

Reference range

N/A

Last updated

Thu, 07 Aug 2025 14:52:19 IST


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