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Monoallelic ELANE mutations are the most common cause of isolated neutropenia (assuming acquired causes have been excluded). The neutropenia can be congenital or cyclical.
If the neutropaenia is not suggestive of ELANE mutations, or no mutations were identified on ELANE genetic testing, R91 - Cytopenia - may be appropriate.
R313.1 - analysis for small variants in the ELANE gene by single gene sequencing
NHSE funded test referrals should meet the relevant NHSE eligibility criteria.
See turnaround times.
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 NoƩmi Roy Consultant Haematologist John Radcliffe Hospital
Email: noemi.roy@ouh.nhs.uk
See contact us.
Price list for rare disease services (pdf)