The dashboard below is the Online Scottish Genomic Test Directory for Cancer and Rare and Inherited Disease. It contains a list of all services currently available in Scotland.
Please consider the information below.
NHS Scotland Genetic Laboratory Contact Details
The Scottish Genomic Test Advisory Group for Cancer (SG-TAG Cancer)
The Scottish Genomic Test Advisory Group for Rare and Inherited Disease (SG-TAG RID)
The SSNGM Clinical Leads and Scientific Lead will review and update the Test Directories periodically. If you would like to make an amendment to the online test directory then please contact the SSNGM team: nss.genomicsnetwork@nhs.scot. The addition of a new test requires financial approval, where appropriate.
Change Summary of the Scottish Genomic Test Directory for Cancer and Rare and Inherited Disease
Key Information:
TEST REQUESTING
NHS Scotland genetics services are delivered through four regional genetics centres in Aberdeen, Dundee, Edinburgh and Glasgow. However, samples should be taken and sent to your LOCAL genetics laboratory with the appropriate completed genetics referral form (or proforma, if required). For local sample acceptance policies and referral forms, please see the local laboratory website. Services are provided for the clinical indications listed when referred from the appropriate specialties.
SAMPLE REQUIREMENTS
Cancer
A range of sample types may be referred for molecular pathology testing including blood, marrow, formalin fixed paraffin embedded (FFPE) tissue etc. For specific sample requirements associated with each test, please see the local laboratory websites.
Rare and Inherited Disease
For most rare and inherited disease genomic tests with the exception of karyotyping, an EDTA blood sample is required. For karyotyping tests, a lithium heparin blood sample is required.
Other sample types may be required for some services including:
- Urine samples may be required for some mitochondrial tests.
- Appropriate fresh tissue samples from post mortems for various tests.
For specific sample requirements, please see the local laboratory website.
TESTING METHODOLOGY
Different methods are utilised depending on the scope of testing. These methods include techniques to detect a single variant up to genome wide screens. Please refer to the test directory for further details on testing methodology.
SCOPE AND RANGE OF TEST
The scope and range of testing refers to the extent of testing and the types of variant that will be detected. The scope of testing includes:
- Targeted testing – testing of specific region(s)
- Whole gene screen – sequence of coding region of relevant gene(s)
- Whole gene screen and copy number – sequence of coding region and assessment of exon level copy number
- Genome wide – detection of large scale rearrangements
The types of variants detected includes:
- Small sequence variants
o Single nucleotide variants (SNVs)
o Insertions / deletions (indels) - Copy number variants (CNVs)
o Exon level
o genome wide level - Repeat expansions
- Aneuploidy
- Genome wide rearrangements
The targets tested refer to the genes / regions tested for the particular clinical indication. If parental samples are required for Trio analysis, this will be stated in the test information.
REPORTING TIMES
Reporting times are listed based on calendar days. These range from 3 to 112 days depending on urgency and complexity of testing. Where more urgent testing is required than what is stated for treatment decisions, please contact the laboratory providing testing to discuss.
CLINICAL CONSENT AND COUNSELLING IMPLICATIONS
It is the referring clinician’s responsibility to ensure that testing and /or storage of genetic material is discussed with the patient and that a summary of clinical consent is included in the patient’s health record. Further information regarding consent can be found here . The patient should discuss and understand the following:
Health records
Results from my test and my test report will be part of my patient health record.
Family implications
The results of my test may have implications for other members of my family. I acknowledge that my results may sometimes be used to inform the appropriate healthcare of others. This could be done in discussion with me, or in such a way that I am not personally identified in this process.
Uncertainty
The results of my test may reveal genetic variation whose significance is not yet known. Deciding whether such variation is significant may require sharing of information about me including (inter)national comparisons with variation in others. I acknowledge that interpretation of my results may change over time as such evidence is gathered.
Unexpected information
The results of some tests may reveal a chance of a disease in the future, and nothing to do with why I am having this test. This may be found by chance, while focusing on the reason for my test, and I may then need further tests to understand what this means for me. If these additional findings are to be looked for, I will be given more information about this.
DNA storage
Normal laboratory practice is to store the DNA extracted from my sample even after the current testing is complete. My sample might be used as a ‘quality control’ for other testing, for example, that of family members.
Data storage
Data from my test will be stored to allow for possible future interpretations.
REFERRAL CRITERIA
The referral criteria outlined in this directory have been developed using national and international guidance appropriate to each individual test that has been commissioned nationally. They have been reviewed by specialists in each test field where appropriate, including NHS clinicians and scientists working in Scotland. All four genomic testing laboratories have been consulted and a unified referral criteria agreed based on the testing commissioned nationally.
The referral criteria should be used by referrers to inform appropriate test requesting and will be implemented on a national basis by all four centres. Where a request for a test does not meet the referral criteria, the appropriate testing centre laboratory will contact the referrer to advise on the outcome and provide guidance about what to do next.
On rare occasions it might be appropriate to offer testing to a patient who do not meet the referral criteria for a particular test. These referrals will be considered on a case by case basis and must be discussed with a senior laboratory scientist / manager before testing can be approved. Referrers should consider the referral criteria and if further advice is required, please contact the testing centre via the contact details above.