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

R189

Respiratory ciliopathies including non-CF bronchiectasis

Test Group

Respiratory

Specialties

Clinical Genetics Respiratory Medicine

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

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

geneticslab@rbht.nhs.uk

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

Cardiology and Respiratory 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