However, continued treatment for several years is associated with an increased risk of malignant transformation to leukaemia. This is associated with somatic activating mutations in the G-CSF receptor gene, CSF3R, therefore monitoring for such mutations in patients on long-term G-CSF therapy is available.
Dominant negative mutations in the CSF3R gene are a cause of severe congenital neutropenia. Testing for this clinical indication is provided as part of the 'Cytopenia - Not Fanconi Anaemia' panel under test code R91.1.
Testing strategy
Patients with neutropenia on long term G-CSF therapy
R338.1 - single gene analysis for small variants in the CSF3R gene.
Target reporting times
Test target reporting time is 21 days.
For other reporting times, please see turnaround times.
Sample requirements and referral information
Clinical guidance and advice is available to referring clinicians from:
Dr Noémi Roy
Consultant Haematologist
John Radcliffe Hospital
Email: noemi.roy@ouh.nhs.uk
Referral form is available from our website. See referral forms and specimen requirements and referring samples.
Requesting specialties
- Haematology
- Immunology
- Oncology
Contact details
See contact us.
