Liver Molecular Genetics

The Liver Molecular Genetics laboratory provides genetic testing services for a range of medical specialities. The laboratory’s tests have been developed from close collaboration between clinical, laboratory and academic groups with the aim to change clinical practice worldwide. With a particular focus on gastrointestinal disorders, the laboratory tests for inherited conditions, genetic disease association alleles and can perform HLA genotyping for transplant services. As early adopters of Next Generation Sequencing technology, the laboratory has considerable experience in the specialist interpretation of results and staff members actively contribute to patient management through multi-disciplinary meetings. The laboratory were the first to clone the human bile salt export pump protein (BSEP) – a major transporter in the liver, and are currently taking part in a worldwide collaborative study investigating further genetic abnormalities in children with the aim of improving the clinical treatment of patients.

Important notice to service users, September 2018:

Due to staff shortages and higher than expected demand, there are backlogs and reporting delays for some tests in the Liver Molecular Genetics Laboratory.

The next generation sequencing based tests currently have turnaround times of 2-4 months. Referrals marked as clinically urgent are prioritised. We are working to address these issues as soon as possible. Please contact the laboratory if you require any further information. Please note: the Liver Molecular Genetics laboratory is not accepting prenatal testing for any of the services it offers, Prenatal testing is available through regional genetics laboratory’s rare disease services.

The LMG service has a throughput of about 2000 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 & ServicesTurnaround
Cholestasis Gene Panel (including genetics for neonatal cholestasis, PFIC, BRIC, DILI and Alagille Syndrome)
Analysis of 28 genes by Next Generation Sequencing (NGS). (ATP8B1, ABCB11, ABCB4, AKR1D1, HSD3B7, CYP7B1, SLC27A5, AMACR, CYP7A1, CYP27A1, BAAT, TJP2, ABCC2, VPS33B, VIPAS39, JAG1, NOTCH2, excluding exons 1-4, DCDC2, BCS1L, CLDN1, TALDO1, NR1H4, SLC25A13, GNAS codons 201 and 227 only, NPC1, NPC2, UGT1A1, MYO5B40 working days
Wilson disease genetics
Analysis of the ATP7B gene using next generation.40 working days
Intestinal Failure Panel ( Infantile bowel disease)
Analysis of 8 genes by Next Generation Sequencing (NGS). (MYO5B, STX3, TTC37, SLC26A3, SKIV2, EPCAM, GUCY2C, SPINT2)40 working days
Testing of family members for known variants.
Sanger sequencing of variants identified in the genes tested by the laboratory.20 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 allele10 working days
Coeliac disease genotyping
HLA DQ2 and DQ8 genotyping10 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