Test Background We perform exon sequencing for the following genes: CFHR5, CFH, CFI C3, CFB, CD46/MCP. Variations, such as SNPs or point mutations, are further identified by sequencing.
Clinical Indications Abnormal findings of complement components or functional complement pathways.
Sample Required 1 x 10 mL (or 2 x 5 mL) EDTA (lavender top) Clearly labelled with the surname, forename and date of birth Record the date the sample was taken on the request form. The sample should be sent in a secure container (at ambient temperature) by first class post (within UK) or by courier (outside UK).
Sample Volume 10 mL
Turnaround Time 90 days
Due to the specific nature of these tests, they must be pre-arranged with a senior scientist (Dr P Pantelidis, Dr A Cox, Ms A Hall) from the Immunology laboratory, who will also supply you with a special request form. The request form can also be downloaded from this link. If there is uncertainty regarding the gene target(s), we recommend that you contact Prof. Matthew Pickering (Professor of Rheumatology, Centre for Complement & Inflammation Research (CCIR))before placing a request
Sequencing previously performed externally now done in-house