NHS Lothian, Borders and Fife cardiologists can arrange genetic testing for their patients with an established diagnosis of an inherited cardiac condition. Genetic testing is useful for establishing the cause of a condition in an individual. The testing does not always identify a genetic cause and therefore is rarely useful for confirming or excluding a diagnosis. If there is uncertainty about the precise diagnosis please refer patients for discussion at the ICCMDT via the departmental email address.
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 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. It is important patients are made aware of this before samples are sent in for testing.
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
