Professionals – Brief Overview HFE
This is common inherited disorder caused by a genetic predisposition to absorb and store excess dietary iron. It is more common in those with Northern European ancestry.
Symptoms
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Professionals
Patients
p.C282Y variant is not present
p.C282Y and p.H63D variants are not present
Heterozygous for p.H63D
Heterozygous for p.C282Y
Homozygous for p.H63D
Compound heterozygous for p.C282Y and p.H63D
Homozygous for p.C282Y
Reflex testing
Causes of iron overload
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The Clinical Genetics department is situated on Level 2A of the Laboratory Medicine Building of the Queen Elizabeth University Hospital. The staff of the Clinical Genetics Department see increasing numbers of patients and their families every year at general genetics clinics, cancer genetic clinics and other specialist genetic clinics.
These clinics are held within the department clinic area on level 1A, at other Glasgow hospitals or for some conditions, at a number of community locations throughout the West of Scotland, including Kilmarnock, Wishaw, Ayr, Larbert and Dumfries. We also offer virtual appointments by video or telephone where appropriate, or may reply by letter.
General enquiries
Cancer Genetics enquiries
Prenatal Genetics enquiries
Referrals
Referrals should be made to the department by:
SCI-Gateway “Clinical Genetics” email: ggc.genetics.referrals@nhs.scot
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The Scottish MRSA Reference Laboratory (SMRSARL) was established in April 1997. We were created in response to a rapid increase in the number of MRSA infections identified in hospitals across Scotland. We are commissioned by National Services Division for Scotland, with clinical and scientific advice from Public Health Scotland (PHS) . Since November 2013, the Scottish MRSA Reference Laboratory has been located within the New Lister Building, Glasgow Royal Infirmary, NHS Greater Glasgow and Clyde.
The SMRSARL provides a national MRSA reference service for isolates from diagnostic laboratories throughout Scotland. The services we provide include: confirmation of MRSA status, detection of various toxin genes and epidemiological typing of strains. We also provide advice on infection control issues and have an ongoing research and development program. We collaborate with PHS to provide data on the national trends in MRSA epidemiology in Scotland.
The Scottish Government have provided funding for an Enterococcal Surveillance Service aiming to describe the genetic epidemiology of invasive E. faecium and resistant E. faecium and E. faecalis in Scotland. Scotland has a high prevalence of vancomycin resistance amongst invasive E. faecium isolates. To investigate the reasons for this, Boards are kindly requested to submit isolates as described in the above communications. Limited outbreak support continues to be available and it is hoped that an improved understanding of the background epidemiology will allow improved outbreak support in future. For investigation of cluster/outbreak isolates please contact SMiRL (Glasgow) to discuss prior to sending.
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The Scottish Antimicrobial Resistance Service (SAMRS) investigates carbapenem resistance in Enterobacterales, Pseudomonads, Acinetobacter species and other healthcare associated Gram negative bacteria. We were commissioned in 2016 by National Services Division for Scotland, with clinical and scientific advice from Public Health Scotland (PHS).
The increasing incidence of carbapenemases across Scotland led to the formation of our service. From 2016, we began providing molecular detection for the ‘Big 5’ carbapenemase genes (KPC, NDM, VIM,OXA-48 and IMP). In 2018, we introduced molecular detection of OXA-23, OXA-24/40, OXA-51 and OXA-58 in isolates of Acinetobacter species. Finally, in 2019 we commenced our broth microdilution service. Broth microdilution allows our team to further screen for other mechanisms of resistance (including rare carbapenemases).
We investigate colistin resistance and other exceptional phenotypes demonstrated by Enterobacterales, Pseudomonads, Acinetobacter species and other healthcare associated Gram negative bacteria. We also provide cefiderocol sensitivity testing for multidrug resistant organisms (on request).
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Since November 2013, the Enteric Bacterial Infections Service (EBIS) (formerly known as the Scottish Salmonella, Shigella and Clostridioides difficile Reference Laboratory (SSSCDRL)) has been located within the New Lister Building, Glasgow Royal Infirmary, NHS Greater Glasgow and Clyde.
The EBIS are the National Reference Centre for the characterisation of Salmonella, Shigella and C. difficile. We are commissioned by National Services Division for Scotland, with clinical and scientific advice from Public Health Scotland (PHS).
The EBIS provides antimicrobial susceptibility testing and Whole Genome Sequencing (WGS) of these pathogenic enteric bacteria. The Laboratory actively participates in training, development and relevant externally-funded research and works closely with a number of agencies including PHS and the Gastrointestinal Bacterial Reference unit (GBRU), London.
The laboratory participates in the EC-funded programme organised by the European Centre for Disease Prevention and Control for surveillance of gastrointestinal infections.
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The Diagnostic and Reference Parasitology Service (DRPS) (formerly known as the Scottish Parasite Diagnostic and Reference Laboratory (SPDRL)) was established in 1982. Our aim is to provide an efficient and effective parasite diagnostic and advisory service for Scotland.
We are commissioned by National Services Division for Scotland, with clinical and scientific advice from Public Health Scotland (PHS). Since November 2013, the DRPS has been located within the New Lister Building, Glasgow Royal Infirmary, NHS Greater Glasgow and Clyde.
The DPRS provides a service to Medical Microbiology laboratories across Scotland. The services offered include: diagnosis and identification of parasites in clinical material, diagnosis of human parasite diseases by immunological methods, advice regarding investigation of patients and the appropriateness of tests and finally, advice about prophylaxis and treatment.
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The laboratory is open from 9.00am to 5.00pm, Monday to Friday (except Bank Holidays).
There is a limited ‘on-call’ service on weekend mornings to support the cardiac transplant service.
For all non-urgent Immunology & Neuroimmunology laboratory enquiries, please email Immunology.Labs@ggc.scot.nhs.uk
Please phone the laboratory to discuss all urgent requests.
Postal Address
Department of Immunology and Neuroimmunology
Level 1B, Laboratory Medicine & Facilities Management Building
Queen Elizabeth University Hospital
1345 Govan Road
Glasgow
G51 4TF
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How reliable is my patient’s result?
Measurement of uncertainty refers to the extent of variation of results at a given value within our assays. This can be affected by a multitude of factors. We generate data over an extended period of time for each of our quantitative assays in order to provide a measure of the expected range in results.
This aids the clinician to determine the significance of any change in concentration of a given analyte – particularly relevant for those tests used in monitoring.
Summary tables below contain uncertainty of measurement values for our assays.
- Automated serology – includes total IgE, allergen specific IgE, IgA & IgG TTG (coeliac serology), CCP antibodies, MPO/PR3 antibodies, GBM antibodies, dsDNA antibodies, ENA antibodies (screen & identities), IgG Aspergillus antibodies, tryptase.
- Immunoblot – includes liver antibodies and neuronal antibodies.
- Specialist techniques – includes acetylcholine receptor antibodies, GAD antibodies (for Diabetes and Stiff Person Syndrome), intrinsic factor antibodies and functional antibodies.
- Immunochemistry (Optilite) – includes serum free light chains and C1 inhibitor (quantitative assay).
- Complement function – includes C1 inhibitor function, classical complement function, alternative complement function.
- Flow cytometry – including lymphocyte subsets analysis for CD3+ CD4+/CD8+ T cells, CD19+ B cells and CD16/56+ NK cells (percentages and absolute counts)
Please contact the laboratory to discuss if required.
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Immunology
Neuroimmunology
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