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 |
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 |
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 |
Fri, 03 Jan 2025 13:53:17 GMT |