Clinical Indication ID & Name
Respiratory ciliopathies including non-CF bronchiectasis
Test Group
Respiratory
Specialties
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
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