Laboratory Medicine

Who can be seen at the genetic clinic

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Inheritance Pattern Information Leaflets

Common Questions at the Genetic Clinic

Depending on the reason for the consultation, some of the questions the doctor may answer are:

QEUH clinic information

Referral Guidance

Common Referrals

Referrals to the Genetic Clinics

What your Patient should expect at the Genetic Clinic

Patients NOT likely to need a referral

Cystic Fibrosis

Haemoglobinopathy

Hereditary Haemochromatosis

We do not routinely see patients for Haemochromatosis diagnostic or carrier testing in the genetics clinic, unless there are additional concerns.  Further useful information about the condition can be found via the NHS Conditions website: Haemochromatosis – NHS (www.nhs.uk)

Requesting genetic testing:

Non-genetic specialists (including GPs) can request haemochromatosis carrier testing (5-10ml EDTA sample, sent to Laboratory Genetics). Guidance for testing and management of Haemochromatosis have been produced by the British Society for Haematology (BSH).

Acceptance criteria must be met and stated on the request form (see  The Scottish Genomic test directory, NSD611-003.20-SSNGM-Test-Directory-Rare-Inherited-Disease-V5.pdf)

Genetic test request form can be found here: https://www.nhsggc.scot/downloads/routine-genetic-testing-request-form-2/

*Before requesting this test, please check clinical portal to ensure that the patient has not been tested before. The results of these genetic tests will not change over time, and so repetition is of no value.

Non-healthcare professionals are not permitted to request genetic testing.

For results interpretation and family advice see information provided here: Hereditary haemochromatosis information for clinicians document link

An Overview of Hereditary Haemochromatosis

Hereditary Haemochromatosis

Haemochromatosis is a common inherited condition that affects how the body absorbs iron from your diet. It is more common in those with Northern European ancestry. 

Individuals with hereditary haemochromatosis experience a slow build-up of iron in the body over a number of years. Too much iron in the body is known as iron overload.  The excess iron can be stored in organs and tissues and lead to symptoms such as fatigue, joint pain, abdominal pain, shortness of breath and weight loss.  The condition can also affect the organs in the body such as the pancreas and the liver, which can lead to diabetes, liver cirrhosis, arthritis, cardiac problems and skin discolouration.

Treatments can include iron monitoring, chelation therapy, venesection to remove blood and reduce iron levels and changes to diet and lifestyle.

The genetics of Hereditary Haemochromatosis

Haemochromatosis is caused by variants in a gene called HFE gene.  We all have two copies of this gene as we inherit one from each of our parents.  For an individual to be affected with hereditary haemochromatosis, they must have alterations on both copies of the HFE gene. Carriers have an alteration on only one of their copies of the HFE gene. Therefore, for an individual to be affected by the condition, both parents must be carriers.

When both parents are carriers of Hereditary Haemochromatosis, in every pregnancy there is a:

• 1 in 4 (25%) chance of having a baby who is not affected and not a carrier
• 2 in 4 (50%) chance of having a baby who is a healthy carrier
• 1 in 4 (25%) chance of having a baby who is affected by the condition

This is known as autosomal recessive inheritance.

Genetic testing for Hereditary Haemochromatosis 

Individuals who meet the testing criteria outlined the Scottish Genomic test directory (link can be found on the website) or who have a first-degree family member who is known to carry an HFE variant can have genetic testing arranged by non-genetics specialists (including GPs). Testing requires a 5-10ml EDTA sample sent to Laboratory Genetics with a genetic test request form (see website for link). Testing covers common alterations C282Y and H63D.

Genetic test results interpretation

No Variants detected

If a patient’s results showed they do not have the C282Y or H63D alterations in the HFE gene they are not likely to have hereditary haemochromatosis. We would not offer any further genetic testing or clinical follow up. If an individual is experiencing iron overload symptoms they should be investigated and treated as appropriate, but these are not likely to be caused by hereditary haemochromatosis.

Heterozygous for C282Y or H63D

If a patient has been found to be a carrier of HFE-related haemochromatosis they have an alteration on one copy of their HFE gene. Carriers of the condition are generally well and are unaffected with the condition. To be affected an individual must have genetic alterations on both their copies of the HFE gene, which leads to iron overload.

As carriers are generally well, they do not require any treatment or follow up therefore there is no further genetic testing that we would offer to your patient. If an individual is experiencing iron overload symptoms they should be investigated and treated as appropriate. However, these symptoms are not likely to be caused by HFE-carrier status.

Homozygous C282Y

Individuals who are found to be homozygous for the C282Y alteration in the HFE gene are generally affected by haemochromatosis and experience iron overload. Symptoms can be variable but generally include fatigue, joint paint, abdominal pain and weight loss. If left untreated it can lead to worsening symptoms including liver disease and diabetes. If an individual has raised iron levels, they should be referred to gastroenterology for management and follow up (see full management guidelines via link on website).

Compound Heterozygous C282Y/H63D

Individuals who are found to be compound heterozygous for the C282Y and H63D alterations in the HFE gene can experience iron overload. However, iron overload in these individuals happens at a slower rate than those homozygous for C282Y. Individuals can experience symptoms but are at a lower risk of serious complications such as organ failure. If ferritin and transferrin saturations levels are normal it is recommended that individuals have these check every 3 years. This can be done through the GP. If levels are raised individuals should be referred to Gastroenterology for management and follow up. 

Homozygous H63D

Individuals who are found to be homozygous for the H63D alteration in the HFE gene are unlikely to experience iron overload. Some individuals can experience iron overload and should have any symptoms investigated. This result does not confirm or exclude a diagnosis of haemochromatosis. If homozygous individuals do not have a raised iron level regular iron monitoring is not required. Genetic testing is not recommended for family members of homozygous individuals who do not have symptoms.

Implications for children

Testing Children – Carriers

If a patient is a carrier of haemochromatosis (heterozygous for H63D or C282Y) any children have a 1 in 2 (50%) chance of also being a carrier. Genetic testing can be carried out from the age of 16 via the GP practice. As mentioned, Carriers are generally well and do not experience any symptoms. If both parents are carriers there is a 1 in 4 (25%) chance any children will be affected. If any children are found to be affected, they should be referred to gastroenterology for follow up and management.

Testing Children – Affected

If a patient is affected with haemochromatosis any children that they have will be a carrier of the condition. This is because affected individuals have alterations in both copies of their HFE gene. We always pass on one copy of each of our genes to our children, so children of affected individuals will always inherit an altered copy of the HFE gene making them a carrier of haemochromatosis. If an affected individual’s partner is a carrier of haemochromatosis there is a 1 in 2 (50%) chance any children will be affected with the condition. Children can be tested from the age of 16 through their GP practice. If they are found to be affected, they should be referred to gastroenterology for management and follow up.

Implications for first degree family members

Parents and siblings of individuals who are carriers or affected by Hereditary Haemochromatosis can request genetic testing via their GP to clarify their carrier status. Partners of individuals who are affected or carriers can also seek testing via the GP. Results interpretation and management guidance as above.

Reproductive implications

If an individual is affected with Hereditary Haemochromatosis and their partner is a carrier, there is a 1 in 2 chance any children they have will be affected by the condition. If their partner is not a carrier any children, they have will all be carriers of the condition. Since Hereditary Haemochromatosis is an adult-onset condition with a number of management options genetic testing during pregnancy (prenatal testing) is unlikely to be offered. See above section about testing children.

If a couple are both carriers of Hereditary Haemochromatosis any children have a 1 in 4 chance of being affected and a 1 in 2 chance of being a carrier. As above prenatal testing is unlikely to be offered, and children can consider testing from the age of 16 via their GP.

Patient resources

Further information for patients can be found at the following links:

• Haemochromatosis UK – https://www.haemochromatosis.org.uk/
• NHS Inform – https://www.nhs.uk/conditions/haemochromatosis/
• Kings Collage Hospital NHS Foundation Trust – https://www.kch.nhs.uk/wp-content/uploads/2023/02/2952-Genetic-Haemochromatosis-v7.pdf

Types of Genetic Tests

Mutation Analysis

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Family Linkage Studies

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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

MDT clinics are listed below, please note that these clinics are not administered by Clinical Genetics.MDT clinics are listed below, please note that these clinics are not administered by Clinical Genetics.

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

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.

• GEM 5000 blood gas analysers
• Blood gas risk assessment
• Blood gas instruction

Abbott Freestyle Precision Pro glucose meters

• Blood glucose risk assessment
• Blood glucose instruction

Abbott i-STAT analyser

• I-STAT risk assessment
• I-STAT instruction

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

• Clyde Sector email address: Clyde.BiochemistryPOCT@ggc.scot.nhs.uk
• North Sector email address: NorthGlasgow.BiochemistryPOCT@ggc.scot.nhs.uk
• South Sector email address: SouthGlasgow.BiochemistryPOCT@ggc.scot.nhs.uk

Haematology Contact Information

• Clyde Sector: Robert Anderson, Quality, Training and POCT Manager, RAH – Robert.Anderson3@ggc.scot.nhs.uk
• North Sector: Kevin Marriott, Quality, Training and POCT Manager, GRI – Kevin.Marriott@ggc.scot.nhs.uk
• South Sector: Linsay Thomson, Quality, Training and POCT Manager, QEUH – Linsay.Thomson@ggc.scot.nhs.uk

Virology Contact Information

• Sally Taylor, Technical Manager, GRI – Sally.Taylor@ggc.scot.nhs.uk

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

• NHSGGC POCT Policy https://www.nhsggc.scot?p=88982
• NHSGGC POCT Checklist https://www.nhsggc.scot/downloads/nhsggc-poct-checklist-2/
• Glucose meter checklist for new users
• For a reprint of an existing barcode please email the biochemistry contact for you sector
• Ketone meter checklist for new users
• Blood gas (GEM 5000) checklist for new users

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.

Point of Care Testing (POCT) Services Offered in NHSGGC

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

Further Information and Resources

• WoSSVC Request Form for written completion. (For use where TrakCare is unavailable within NHSGGC and for all external users).
• WoSSVC SARS CoV-2 Request Form for written completion. (For use where TrakCare is unavailable within NHSGGC and for all external users).
• WoSSVC DBS Request Form for written completion. Only for use with Dried Blood Spot samples.
• WoSSVC Influenza Sequencing Request Form
• WoSSVC HBV Health Care Worker Request Form
• Integrated guidance for management of BBV in HCW
• WoSSVC HCV Resistance Request Form
• WoSSVC HIV Resistance Request Form
• WoSSVC HIV Tropism Request Form

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 SW00E4 1 x 100 (NP866/21)

•    Manufacturer – E + O Laboratories Limited
•    SKU code/Item number – 289523 (reference SW00E4)
•    Pack Size – box of 100