Clinical Indication ID & Name
Nijmegen breakage syndrome
Test Group
Haematology
Specialties
Test code
R259.1
Test name
N/A
Target genes
Nijmegen breakage
Test scope
n/a
Test method/ technology
DNA repair defect testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Molecular findings suggestive of Nijmegen breakage syndrome from genome, exome or other genomic analysis, OR
2. Clinical features characteristic of Nijmegen breakage syndrome
Test code
R259.2
Test name
N/A
Target genes
NBN
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Molecular findings suggestive of Nijmegen breakage syndrome from genome, exome or other genomic analysis, OR
2. Clinical features characteristic of Nijmegen breakage syndrome
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic, R89 Ultra-rare and atypical monogenic disorders or other broad tests should be used except where clinical features are characteristic of Nijmegen breakage syndrome • Prenatal diagnosis or cascade testing by chromosome breakage testing will be requested via R240 Diagnostic testing for known familial mutation(s)
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form