Familial Hypercholesterolaemia

Description: 
This test uses Next Generation Sequencing (NGS) Technology to look for variants in the genes associated with Familial Hypercholesterolaemia (FH). This consists of screening of all of the coding regions of LDLR, LDLRAP1 and PCSK9, plus NGS dosage analysis to detect exon deletions or duplications in these genes. The LDLR promoter is also included. For APOB, exon 26 is screened only and there is no dosage analysis for this gene.
Clinical details: 
Referrals for Familial Hypercholesterolaemia usually fulfil the Simon Broome Critieria which takes into account the individual's high cholesterol levels, family history of heart disease and other signs such as tendon xanthoma.
Synonyms or keywords: 
FH, APOB, LDLR, LDLRAP1, PCSK9, Autosomal Recessive Hypercholesterolaemia (ARH), Cholesterol
Department: 
Sample type and Volume required: 
3ml EDTA blood or 5 - 10ug genomic DNA
Turnaround time: 
88% reported within 60 days. Internal audit July - September 2019.
Contacts:
Monogenics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2582/1696
F: 020 7188 7273
E: dnadutyscientist@viapath.co.uk; gst-tr.viapathgeneticsoffice@nhs.net
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 11/10/2019