Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R294

Ataxia telangiectasia - DNA repair testing

Test Group

Neurology

Specialties

Oncology Clinical Genetics Haematology Immunology

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

South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

kch-tr.pnd@nhs.net

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

Rare Disease Order Form Record of Discussion Form

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