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Laboratory Medicine

General Genetic Clinics

Clinics are held on weekdays at Level 1A, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow. Peripheral Clinics are held, usually monthly, at the following locations:

  • Crosshouse Hospital, Kilmarnock
  • Houldsworth Centre, Wishaw
  • Dumfries and Galloway Royal Infirmary, Dumfries
  • Forth Valley Royal Hospital, Larbert 

All referrals should be sent to the Clinical Genetics Service at Queen Elizabeth University Hospital (Laboratory Medicine ) and the patients will be offered an appointment at the nearest appropriate clinic, or in some situations, a virtual consultation.

Specialist Genetic Clinics
Prenatal Genetics Clinics

Consultant and Genetic Counsellor clinics are held at Clinical Genetics Department, Queen Elizabeth University Hospital

MDT Clinic alongside Fetal Medicine Service at Queen Elizabeth University Hospital

Cancer Genetics Clinics

Consultant and Genetic Counsellor clinics are held at Clinical Genetics Department, Queen Elizabeth University Hospital

At present, satellite clinics for cancer genetics are not being held at locations around the region, but patients will be offered remote consultation by video or telephone as an alternative to travelling to Glasgow to be seen face to face, as appropriate.  

It is not always necessary to see patients with cancer genetics family history in clinic, and some referrals will be dealt with by letter. 

Myotonic Dystrophy Clinics – Adults

Staff Grade Doctor delivers clinics, weekly at Clinical Genetics Department, Queen Elizabeth University Hospital, Glasgow. And at peripheral locations: University Hospital Crosshouse, Forth Valley Royal Hospital, The Houldsworth Centre in Wishaw, University Hospital Monklands. Dumfries and Galloway Royal Infirmary, Inverclyde Royal Hospital and Vale of Leven Hospital.

Multidisciplinary Clinics with Clinical Genetics Involvement Achondroplasia – Children

Jointly with paediatric endocrinology/neurosurgery/ENT/respiratory medicine/orthopaedics. 4-5 times per year, Royal Hospital for Children (RHC), Glasgow

Aortopathy – Children

Jointly with paediatric cardiology, paediatric rheumatology and clinical genetic input. Two times per year, RHC Glasgow

Cardiac Conditions – Adults and children- Direct referrals to ‘Inherited Cardiac Conditions’ on SCI-Gateway

Jointly with Consultant Cardiologists. Weekly, Clinical Genetics department, Queen Elizabeth University Hospital, Glasgow

Child Development

Jointly with community paediatricians in Child Development Centres, Greater Glasgow & Clyde/Lanarkshire/Ayrshire 

Complex Bone Disorders- Children (direct referrals to paediatric endocrinology)

Jointly with paediatric endocrinologist. Twice monthly, RHC, Glasgow

Craniofacial Clinic – Children

Jointly with craniofacial team, Queen Elizabeth University Hospital, Glasgow

Dermatology- Children and Adults

Jointly with Consultant Dermatologists, Queen Elizabeth University Hospital, Glasgow

Differences in Sexual Development clinic – Children

Jointly with Paediatric Endocrinology, Clinical Psychology. Monthly, RHC, Glasgow

Endocrine cancer (familial paraganglioma, MEN, VHL)- Children and adults

Jointly with endocrinologists at Queen Elizabeth University Hospital, Glasgow. And with endocrinologists at RHC, Glasgow.

Endocrine/Genetic clinic – Children

Jointly with paediatric endocrinology. Two times per year, RHC Glasgow

Epilepsy – Children

Jointly with Paediatric Neurologists, RHC, Glasgow

Fetal Medicine  

Jointly with Fetal Medicine Service, Queen Elizabeth University Hospital, Glasgow

Huntington Disease Management

Jointly with Consultant Neurologist. Institute for Neurological Sciences, Queen Elizabeth University Hospital, Glasgow

Neurofibromatosis 2 (Schwannomatosis)

Jointly with specialist ENT and skull base surgeons. Queen Elizabeth University Hospital, Glasgow

Neurogenetic/movement disorders – Adults

Jointly with Consultant Neurologist, Institute for Neurological Sciences, Queen Elizabeth University Hospital, Glasgow

Neurogenetics – Children

Jointly with Neurologists at RHC, Glasgow

Neuromuscular – Children and adults

Jointly with Paediatric Neurologists. Monthly to bimonthly. RHC Glasgow. No direct referrals.

Jointly with Adult Neurologists. Bimonthly to quarterly. Clinical Genetics, Queen Elizabeth University Hospital, Glasgow. No direct referrals.

Paediatric Rheumatology/Genetic clinic

Jointly with paediatric rheumatology. Two times a year, RHC Glasgow

Pre-implantation Genetic Diagnosis Clinic

Patients seen at Clinical Genetics clinics initially, and thereafter by Assisted Conception Service.

As clinical staff may not be in the department or may be on leave, it may be preferable to contact via the genetics secretaries or generic email / phone rather than directly.

Telephone: 0141 354 9200 or 0141 354 9300

Email: ggc.genetic.secretaries@nhs.scot

Consultant Clinical Geneticists
  • Dr Rosemarie Davidson (Lead Clinician for Cancer Genetics and for Huntington disease) 
  • Dr Pete Constantinou 
  • Dr Shelagh Joss  (Lead clinician)
  • Dr Cheryl Longman (Neuromuscular genetics consultant) 
  • Dr Mark Hamilton
  • Dr Ruth McGowan (Lead clinician for cardiac genetics, Lead clinician for DSD)
  • Prof Daniela Pilz 
  • Dr Sarah Wedderburn
  • Dr Jenny Patterson
  • Dr Karolina Pesz (lead clinician for prenatal diagnosis and preimplantation testing)
  • Prof Edward Tobias (Senior Lecturer & Honorary Consultant) 
  • Dr Michael Yates
Speciality Doctor
  • Dr Bob Ballantyne 
Specialist Registrars
  • Dr Kerra Templeton
  • Dr Lisa Bryson
  • Dr Rhiannon Mellis
  • Dr Lucy Littlejohn
  • Specialist Registrars usually remain with the department for the duration of their 4 year training programme or may rotate to other Scottish Clinical Genetics Centres
WoS Genetic Counsellors
  • Mark Longmuir  (Head of Service): Lead Consultant Genetic Counsellor
  • Nandini Somanathan: Principal Genetic Counsellor
  • Subhashini Crerar (she/her): Consultant Genetic Counsellor, Clinical Lead for Prenatal & Neurodegenerative Genetic Counselling. Specialities: Rare Disease, Neurogenetics and Prenatal 
  • Irene Esteban: Genetic counsellor
  • Angela Iley: Genetic Counsellor
  • Abrar Buhlaiqah: Pre-registered Genetic Counsellor
  • Lisa Hay: Genetic Counsellor
  • Terix To: Pre-registered Genetic Counsellor
  • Camelia Harrison: Pre-registered Genetic Counsellor
  • Somya Ellis: Genetic Counsellor
Cancer Genetic Counsellors
  • Catherine Watt – Principal Genetic Counsellor 
  • Nicola Bradshaw – Macmillan Principal Genetic Counsellor
  • Jennifer Gorrie – Genetic Counsellor 
  • The cancer genetics service provides comprehensive genetic counselling to individuals with a family history and / or a personal history of cancer,  This process involves constructing detailed and confirmed family histories, risk assessment, arranging screening and or genetic analysis/  testing where appropriate and providing ongoing support.  The service also participates in various U.K and international research studies.
Genetic Clinic HCSW’s
  • Elaine Sprowl
  • Sylvia McCreight
Neuromuscular Care Advisor

Supports children with neuromuscular conditions and their families.

Further info available at www.smn.scot.nhs.uk  Care-Advisor.pdf (scot.nhs.uk)

COVID-19 Instructions and Risk Assessments

All instructions and risk assessments for testing in patients with suspected or positive COVID-19 are listed below. This page will hold the most up to date version.

Abbott Freestyle Precision Pro glucose meters

Abbott i-STAT analyser

Roche influenza point of care unit

  • POC influenza risk assessment
  • POC influenza instruction

Hemocue Hb and WBC

  • Hemocue risk assessment

Haematology QEUH

  • Haemochrom risk assessment
  • Rotem risk assessment
  • Verify Now risk assessment

POCT Contact Information

  • Chairperson NHSGGC POCT Committee: Andrew Kerry, Consultant Clinical Scientist, Royal Alexandra Hospital

Biochemistry Contact Information

Haematology Contact Information

Virology Contact Information

POCT Support Information

Please contact the relevant laboratory discipline in your sector if you are considering introducing a new POCT service in your area. Staff will be happy to talk you through the process and direct you to the paperwork required prior to approval and introduction of any service. As a first step we would encourage you to read the POCT policy and POCT checklist.

No new POCT service will be introduced or supported by the committee unless the POCT checklist is completed and signed off.

POCT Useful Documentation

What is Internal Quality Control?

Internal quality control (IQC) involves analysis of control material of known concentration within predefined limits. This ensures the quality of the results produced prior to reporting any patient results from the POCT device

What is External Quality Assurance?

External Quality Assurance (EQA) involves analysis of a sample of unknown value from an external, independent source. The results are scrutinised by the EQA scheme provider and allow comparison of results across multiple sites. Participation in EQA allows monitoring of performance and possible early detection of a systematic problem with analysis of patient samples.

Any site wishing to introduce a new POCT service must enrol in a recognised EQA scheme.

Audit

The POCT team will perform audit of the service and provide feedback to the service lead. The audit outcomes and any corrective and preventative action are documented in the laboratory quality management system.

The NHSGGC Point of Care Testing (POCT) committee meets bi-annually with the aim of policy-making and review of sector POCT groups. The committee also includes Primary Care representation with the aim of guiding appropriate POCT governance in the community. The POCT Co-ordinators management group meets quarterly, with multidisciplinary representation and includes user representation where appropriate. The group focus on implementation and monitoring of POCT activity within each sector.

If you use POCT in your clinical area you must ensure your device is registered with the NHSGGC POCT committee.

What is Point of Care Testing (POCT) Testing?

Point of Care testing is defined as ‘Diagnostic testing that is performed near to or at the site of patient care with the result leading to a possible change in the care of the patient.*’ This normally takes place in a non-laboratory setting by appropriately trained non-laboratory staff.

  • ISO 227870: 2016 Point of Care Testing (POCT) – Requirements for Quality and Competence.
Potential Advantages of POCT

Rapid turnaround of results

  • Reduced patient waiting times
  • Earlier impact on clinical decision making
  • Financial efficiencies

Less invasive

  • Smaller sample volumes

Accessibility

  • Ability to reach remote places
  • Improved healthcare access
Potential Disadvantages of POCT

Expensive compared to conventional laboratory testing

  • Cost of consumables, IQC, EQA
  • Staff resource required at source of testing

Sample quality

  • Higher rate of pre-analytical errors are associated with POCT due to poor sample quality

Staff Training, competence and documentation

  • Appropriate training and continued competency checks required to ensure accurate results
  • POCT may need to be manually entered into patient record which is potentially problematic

Safety

  • Clear protocols required for infection control, storage and disposal of clinical waste etc.

Point of Care Testing (POCT) Services Offered in NHSGGC

Please note, not all services are available in all sectors.

Biochemistry
Haematology
  • Haemoglobin
  • INR
  • ROTEM analysis
  • Verify Now antiplatelet drug monitoring
  • White Cell Count
Microbiology/Virology
  • Flu/RSV (Paediatric RHC)

Further Information and Resources

The West of Scotland Specialist Virology Centre (WoSSVC) is a United Kingdom Accreditation Service (UKAS) accredited medical laboratory No. 9319. A full list of accredited tests can be found on our schedule of accreditation.

Please note users will be informed if an assay/result lies outside the laboratory’s scope of accreditation.

WoSSVC is located at Glasgow Royal Infirmary (GRI) and is part of NHS Greater Glasgow and Clyde (NHSGGC).

Clinical advice and urgent testing: email west.ssvc2@nhs.scot during opening times or phone: 0141 242 9656 (internal 29656). Please note during busy times it is easier to email and a member of the clinical team will respond.

To add on tests please email west.ssvc2@nhs.scot with clinical details and tests required. The email is monitored during laboratory opening hours (we aim to reply to your email within 1 hour, however, at busy times this may not be possible).

Results are available on clinical portal, SCI Store, TrakCare and GPICE for NHSGGC patients if a patient’s CHI has been provided on the request form.

For out of hours clinical advice call the Switchboard on 0141 211 1000 (1000 internal) and ask for the on-call virologist.

Please contact ggc.virologystockrequests@ggc.scot.nhs.uk to request DBS kits and chlamydia swabs.

From the 1st of July 2024 WoSSVC will no longer be able to supply Molecular Sample Solution (MSS) tubes to users.

MSS swab collection kits can be ordered from PECOS, and the ordering details are as follows:

MSS swab collection kits SW0004 1 x 100 (NP866/21)

  •    Manufacturer – E + O Laboratories Limited
  •    SKU code/Item number – 279326 (reference SW0004)
  •    Pack Size – box of 100

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

Add content…..

FOLLOW SAME FORMAT AS ABOVE….H3 Headings within accordion panels and no bold headings…

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

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.

Further Information

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