The South East of Scotland Molecular Genetic service offers a wide range of DNA tests
Clinical and referral advice is available from our Clinical Genetic department
More complete information about specimen types for different tests is also provided in the relevant sections.
Samples for DNA storage only
The DNA lab is happy to receive blood from any patient for DNA extraction for storage: DNA can be stored whether or not testing is available or considered appropriate at the time (see below). it is the responsibility of the referring clinician to ensure that appropriate consent has been obtained and documented.
Postnatal DNA tests
Only a restricted range of tests are available without prior discussion with East Scotland Clinical Genetic Service. Please email or phone with any enquiries:
Email: WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
Phone: 0131 537 1116
The laboratory repertoire includes single gene tests for hereditary conditions with a well defined clinical presentation/phenotype. Testing of at risk family members for familial mutations is available but this must be arranged in consulation with the clinical genetics team to ensure appropriate pre-test counselling. Patients must be appropriately consented and the use of the laboratory request form is strongly recommended.
Hereditary cancer testing is available but must be set up in consultation with the Clinical Genetics Counselling team or consultants. This type of testing is only offered where an elevated risk can be shown from family tree (Pedigree) analysis by specialist Genetic Staff.
More extensive testing may be appropriate for some rarer or more complex cases. It is critically important that these should be discussed in detail with clinical staff before any specimen(s) are sent to the laboratory. The Molecular Genetics lab uses the latest Next Generation Sequencing techniques and the choice of test complexity required (small or medium sized gene panel/occasionally exome testing) is dictated by the clinical phenotype and often family history. The greater the amount of information provided early on in this process the quicker an appropriate level of testing can be determined. For some conditions specialist referral forms are required as the laboratory can send DNA to other specialist labs in the Scottish Consortium of Genetic Laboratories (SGMC) or further afield where appropriate.
DNA samples from any accredited U.K. laboratory outside of the SGMC must include an “Out of Area Test” (OAT) form and/or name and address for billing.
Failure to provide this information may lead to delays in testing.
Prenatal DNA tests
Prenatal DNA tests must be set up with prior discussion with the Molecular Genetic laboratory. The lab will need several weeks to design a test if bespoke testing for recently identified familial variants is required. Family workup should be done at the earliest opportunity ideally pre-conception.
Molecular Genetic Laboratory enquiries
email: edinburgh.dna@nhslothian.scot.nhs.uk
Telephone: 0131 537 1116 (ask for duty clinical scientist)
Principal Clinical Scientist Molecular Genetic Service
David Moore
Clinical Lead Molecular Genetic Service
Professor Mary Porteous
email is the preferred mode of communication but the laboratory also accepts written enquiries.
Our postal address is:
Molecular Genetic Laboratory
South East Scotland Genetic Service
Western General Hospital
Crewe Road
Edinburgh
EH4 2XU
