Biochemistry
| Full details for "Genetic Test for Familial Hypercholesterolemia". | |
|---|---|
Name |
Genetic Test for Familial Hypercholesterolemia |
Alternative name/Profile |
FH, LDLR, APOB, Familial Defective Apolipoprotein B, FDB, hyperlipidemia, hyperlipidaemia, hypercholesterolaemia, PCSK9, APOE |
Department |
Biochemistry |
Investigation |
Familial Hypercholesterolaemia (FH) is the most commonly 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 |
3ml Purple EDTA Blood tube EDTA samples should be sent as soon as possible and the time/date of collection clearly noted on the request form. If any delay in the transport of samples is anticipated, EDTA samples should be left unspun and refrigerated. |
Sample type |
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Sample container & volume |
|
Frequency of analysis |
Monthly |
Turnaround time |
Mutation scan 60 days Mutation screen 30 days |
Availability |
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Notes |
Referred to: Molecular Diagnostics,
Molecular Diagnostics: (01) 416 2054 ssavage@stjames.ie, Specialist Registrar: (01) 416 2047 SHO: (01) 416 3875 |
Related links |
1. Completed Request form for FH genetic analysis Request form and consent form https://www.stjames.ie/media/SJH%20FH%20Genetics%20request%20and%20consent%20form%20revision%202.pdf
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Reference range |
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SJH Patients Only |
No |
Last updated |
Fri, 03 Jun 2022 15:12:19 BST |