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.

Respiratory ciliopathies including non-CF bronchiectasis

Clinical Indication ID & Name

R189

Respiratory ciliopathies including non-CF bronchiectasis

Test Group

Respiratory

Test code

R189.1

Test name

N/A

Target genes

Respiratory ciliopathies including non-CF bronchiectasis (550)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Neonatal presentation with at least one of:
a. Situs inversus plus lower airway or nasal symptoms, OR
b. Persistent respiratory distress where other causes have been excluded, OR
c. Persistent rhinorrhea and cough where other causes have been excluded, OR
2. Testing in childhood with at least one of:
a. Persistent life-long wet cough (CF excluded)
b. Unexplained bronchiectasis (CF excluded)
c. Serous otitis media in association with lower and upper airway symptoms
3. Testing in adults who have had symptoms as above since early childhood, often associated with infertility or subfertility

Test code

R189.2

Test name

N/A

Target genes

Respiratory ciliopathies including non-CF bronchiectasis (550)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Neonatal presentation with at least one of:
a. Situs inversus plus lower airway or nasal symptoms, OR
b. Persistent respiratory distress where other causes have been excluded, OR
c. Persistent rhinorrhea and cough where other causes have been excluded, OR
2. Testing in childhood with at least one of:
a. Persistent life-long wet cough (CF excluded)
b. Unexplained bronchiectasis (CF excluded)
c. Serous otitis media in association with lower and upper airway symptoms
3. Testing in adults who have had symptoms as above since early childhood, often associated with infertility or subfertility

Commissioning group

Specialised

Overlapping idications

n/a

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

gos-tr.norththamesgenomics@nhs.net

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