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).
Testing strategy
Clinically affected probands
R259.2 - analysis for small variants in the NBN gene.
Targeted analysis for known / previously reported familial variants
- Diagnostic confirmation in individuals at risk of inheriting both previously reported familial pathogenic variants and clinically suspected of having the familial condition (R240)
- Prenatal diagnosis is available (R240).
- Segregation studies in affected family members to aid variant interpretation (R375)
- Carrier testing in relatives of clinically affected patients with an autosomal recessive condition (mutation known) (R244).
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.
