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Genetic testing for neutropaenia associated with ELANE mutations - (R313)

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.

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 NoƩmi Roy
Consultant Haematologist
John Radcliffe Hospital


Requesting specialties

  • Haematology
  • Immunology
  • Clinical Genetics

Contact details

See contact us.

Price list for non NHSE referrals

Price list for rare disease services (pdf)

Last reviewed:23 April 2024