Clinical Indication ID & Name
Nijmegen breakage syndrome
Test Group
Haematology
Specialties
Test code
R259.1
Test name
Nijmegen breakage syndrome
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 variant(s)
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Peripheral blood in a lithium heparin bottle, 5ml (2ml from babies). Amniotic fluid and solid tissue specimens in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory). Cultured fibroblast cells are also accepted. Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. For prenatal diagnosis please discuss with the laboratory before sending any samples. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.