NHS Lothian, Borders and Fife cardiologists can arrange genetic testing for their patients with a confirmed diagnosis of an inherited cardiac condition. Genetic testing does not always identify a genetic cause and therefore is rarely useful for confirming or excluding a diagnosis. It should therefore only be considered once a clinical diagnosis has already been made.
If there is uncertainty about the precise diagnosis please refer patients for discussion at the ICCMDT via the departmental email address. Loth.WGHClinicalGenetics@nhs.scot
The testing looks for causative genetic variants in a panel of genes associated with the condition. Identification of a causative variant in an affected individual can help to inform their treatment. It also enables cascade testing of family members to identify which individuals are at increased risk of the condition and may benefit from additional screening and prevention.
Results
Results of the genetic test will be returned to the requesting clinician. In addition positive results and results that identify genetic variants of uncertain significance are copied to the South East Scotland Clinical Genetics Department who will contact the patient and arrange an appointment to discuss their result. Please ensure patients are made aware of this before samples are sent in for testing.
If there is a clear clinical diagnosis of an Inherited Cardiac Condition but no gene variant is detected the Cardiologist should advise that first degree relatives are eligible for baseline cardiac review.
Making A Genetic Test Request
- Patient information sheet : give your patient a copy of the patient information sheet
- Genetic test Request Form : complete the genetic test request form
- Send completed form with EDTA blood sample to the Molecular Genetics Laboratory (details are on the form)
Please note the patient should sign and date the consent form.
The laboratory will not process samples that are accompanied by incomplete or incorrect forms. Before sending the blood sample, please ensure that all genetic test request forms include the following:
- Eligibility is clearly indicated
- All required information is completed (and legible)
- An email address for the requesting healthcare professional is provided for the result to be reported to
Supporting Resources
- Process flowchart: Overview of the test request process
