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
Molecular Haemostasis & Thrombosis
4th Floor North Wing
St. Thomas’ Hospital
London SE1 7EH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old