Clinical Genetics

The East of Scotland Regional Genetics Service is based on Level 6, Ninewells Hospital, Dundee and provides a service to Tayside, North Fife, Angus and Perth and Kinross. It is comprised of the Laboratory Genetic Service which offers a wide range of genetic testing including:

• Variant detection using DNA and RNA analysis for both inherited and acquired genetic conditions
• DNA extraction and storage from a range of patient samples
• Microarray comparative genomic hybridisation (CGH) – please note this testing is currently out of scope by UKLAS for the Service.
• Molecular Pathology test for solid tumours and haematological malignancies
• Rapid aneuploidy testing for the common trisomies
• Conventional karyotyping (chromosome analysis)
• Fluorescent in-situ hybridisation (FISH)
• Cell culture and storage

and the Clinical Genetic Service which provides services to individuals and families including:

• Genetic counselling, prenatal screening, risk assessment and diagnostic services for a wide range of genetic disorders
• Co-ordinating the call and recall of patients at increased risk of familial cancers for regular screening investigations
• Ongoing support of patients with cardiac, neuromuscular and other genetic conditions.  

Contact Details
The Team All enquiries should be directed to the Clinical Genetic Secretarial Team.
Telephone: 01382 632035 (Ext 32035)
Email: Tay.clinicalgenetics@nhs.scot

The Team
Consultant Clinical Geneticists: Dr David Goudie (Clinical Lead), Dr Jonathan Berg, Dr Catherine McWilliam. 
Lead Genetic Counsellor Mrs Jaqueline Dunlop.  
Other Counsellors Mrs Kirsten Henderson, Genetic Counsellor, Mrs Irene Esteban, Macmillan Genetic Counsellor, Mrs Gisela Urgel Reig, Genetic Counsellor.
Senior Clinical Nurse Specialist Mrs Kirsten Patterson.
Genetics Nurse Mrs Grace Gibbon.

Testing for the following conditions is available in Primary care via the 'GP Genetics' tab within ICE:

• Cystic Fibrosis (ScotGen information leaflet)
• Familial hypercholesterolaemia ( How should I assess a person with possible familial hypercholesterolaemia? (NICE CKS) )
• Gilbert Syndrome (NICE Clinical Knowledge Summary)
  
• Hereditary Haemochromatosis (Haemachromatosis UK - A Guide for GPs  , Understanding the Genetics) 
• Thrombophilia Genetic Analysis
• Myeloproliferative Neoplasm (including JAK2)

Specific referral information is linked here and again below for the following:

• Family history of breast or ovarian cancer
• Family History of colorectal or endometrial cancer
• Family history of other cancers
• Suspected Ehler's Danlos Syndrome (EDS) hypermobility type

As above,testing for the following conditions is available directly from primary care via the 'GP Genetics' tab in ICE:

• Cystic Fibrosis
• Familial Hypercholesterolaemia
• Gilbert's Syndrome
• Hereditary Heamochramotosis
• Thrombophilia Genetic Analysis
• Myeloproliferative Neoplasm (including JAK2)

ScotGen condition-specific information leaflets