If the neutropaenia is not suggestive of ELANE mutations, or no mutations were identified on ELANE genetic testing, R91 - Cytopenia - may be appropriate.
Testing strategy
Clinically affected probands
R313.1 - analysis for small variants in the ELANE gene by single gene sequencing.
Targeted analysis for known / previously reported familial variants
- Diagnostic confirmation in individuals at risk of inheriting the previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
- Prenatal diagnosis is available for severe congenital neutropenia (R240).
- Segregation studies in affected family members to aid variant interpretation (R375)
Target reporting times
See turnaround times.
Sample requirements and referral information
All referrals should be accompanied by a completed pre-referral form. See referral forms and specimen requirements and referring samples.
Clinical guidance and advice is available to referring clinicians from:
Dr Noémi Roy
Consultant Haematologist
John Radcliffe Hospital
Email: noemi.roy@ouh.nhs.uk
Requesting specialties
- Haematology
- Immunology
- Clinical Genetics
Contact details
See contact us.
