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Nijmegen breakage syndrome is a chromosome breakage/genomic instability syndrome characterised by microcephaly, growth retardation, immunodeficiency and predisposition to cancer, in particular non-Hodgkin lymphoma.
It results from biallelic loss of function mutations in the NBN gene; over 90 percent of patients have the truncating c.657_661del5 pathogenic variant. This disorder is most common in Eastern European Slavic populations (including Poland).
R259.2 - analysis for small variants in the NBN gene
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)