Clinical Indication ID & Name
Ataxia telangiectasia - DNA repair testing
Test Group
Neurology
Specialties
Test code
R294.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
DNA repair defect testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Clinical features strongly suggestive of ataxia telangiectasia including elevated serum AFP levels, AND one or more of the following:
a. Progressive gait and truncal ataxia with onset between one and four years of age, OR
b. Ocular motor apraxia, OR
c. Ocular telangiectasia, OR
d. Chorea and dysarthria, OR
e. Immunodeficiency with frequent infections, OR
f. Malignancy (e.g. leukaemia and lymphoma, breast cancer, ovarian cancer gastric cancer, leiomyoma, sarcoma or melanoma), OR
2. Molecular findings suggestive of Fanconi anaemia or Bloom syndrome from genome, exome or other genomic analysis
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic, R89 Ultra-rare and atypical monogenic disorders or other broad genomic tests should typically be used except where the above criteria are fulfilled • 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