Liver Molecular Genetics
The Liver Molecular Genetics group have been investigating the molecular basis of cholestasis (failure of bile formation) and they were the first to clone the gene for the human bile salt export pump protein (BSEP) – a major transporter in the liver, and to test it in vitro. If this pump stops functioning it leads to cholestatsis. The observation that some patients with BSEP deficiency develop liver cancer (Hepatocellular carcinoma or HCC) at a very young age raises important questions about mechanisms of cancer, and has significantly changed clinical practice worldwide by seeking comprehensive diagnostics to improve treatment plans. Researchers are also currently taking part in a worldwide collaborative study investigating further genetic abnormalities in children with the aim of improving the clinical treatment of patients.
The LMGservice has a throughput of about 1330 test/year.
Contact
Mr. Pierre Foskett
Tel. +44 (0)20 3299 2253
Email: kch-tr.KCHLMG@nhs.net
Hours of Service
09:00 to 17:30 Monday to Friday excluding Bank Holidays.
Request Form
Our Team
| Test & Services | Turnaround |
|---|---|
| Cholestasis Gene Panel (including genetics for neonatal cholestasis, PFIC, BRIC, DILI and Alagille Syndrome) | |
| Analysis of 27 genes by Next Generation Sequencing (NGS). | 40 working days |
| Wilson disease genetics | |
| Analysis of the ATP7B gene using a combination of next generation and Sanger Sequencing. | 40 working days |
| Haemochromatosis (HFE genotyping) | |
| Testing for three most common HFE variants - p.Cys282Tyr (C282Y) p.His63Asp (H63D) p.Ser65Cys (S65C) | 10 working days |
| HLA B27 genotyping (Ankylosing Spondylitis) | |
| Low definition HLA B27 genotyping | 10 working days |
| HLA B57 genotyping (Abacavir sensitivity) | |
| Genotyping for the presence of the HLAB*57:01 allele | 10 working days |
| Coeliac disease genotyping | |
| HLA DQ2 and DQ8 genotyping | 10 working days |
| Additional testing available for research: | |
| Human Leucocyte Antigens (HLA) | |
| HLA Broad Genotype for: HLA A, HLA B, HLA DRB, HLA DQB | 20 working days |
| Any single (low definition) HLA genotype for: HLA B*51, HLA B*53 | 20 working days |