Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Ataxia telangiectasia – DNA repair testing

Clinical Indication ID & Name


Ataxia telangiectasia - DNA repair testing

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

DNA repair defect testing

Optimal Family Structure


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


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


Education resources


Service updates


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form