Preferred Sample Type
Suitable Specimen Types
- EDTA Whole Blood
Specimen Transport
Extract DNA and store at -20 oC.Samples must be sent in first class post with referral letter from Dr Jones and a consent form from the patient.
Sample Processing in Laboratory
UsualSample Preparation
Store whole blood at 4 oC in research rack in CSU.Do not centriuge or freeze.
Turnaround Time
Not specifiedSample Stability
4 oC in research rack in CSUFamilial Hypercholesterolaemia (FH) Genotyping
General Information
Familial hypercholesterolaemia (FH) is a common single gene disorder, pre-disposing to cardiovascular disease, which is most commonly caused by mutations in the LDL-receptor (LDLR) gene. About 5% of patients carry the p.R3527Q (previously R3500Q) mutation in the apolipoprotein B (APOB) gene and 2% carry the p.D374Y mutation in the PCSK9 gene, but the lack of high-throughput methods make routine genetic diagnosis difficult. An iPLEX MassARRAY Spectrometry mutation test is available to identify 56 mutations (54 in the LDLR gene, 1 in the APOB gene and 1 in the PCSK9 gene).
From Wright et al. Clin Genet 2008: 74: 463–468
Samples must be sent in first class post with referral letter from Dr Jones and a consent form from the patient.
Patient Preparation
None.
Notes
Any questions please contact Dr Alex Lawson on 43235 or the duty biochemist on bleep 2506.
Samples will only be sent with referral from an appropriate consultant.
Reference Range
Provided by reference laboratory