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

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.

Price list for non NHSE referrals

Price list for rare disease services (pdf)