Clinical Indication ID & Name
Cystic fibrosis diagnostic test
Test Group
Core
Test code
R184.1
Test name
N/A
Target genes
CFTR
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Test in an individual clinically likely to be affected with cystic fibrosis:
1. Child with clinical suspicion of CF (e.g. recurrent chest infections, failure to thrive, fat malabsorption, neonatal history of meconium ileus), AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. An additional urgent prenatal situation for the parents or for a close relative, but urgent sweat
testing not accessible
2. Adult with CT-proven bronchiectasis, AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. Chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus, OR
c. Additional exocrine pancreatic dysfunction
3. Idiopathic chronic pancreatitis with exocrine dysfunction (fat malabsorption) with other obvious and acquired causes excluded, AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. Sweat testing not practical, and all other causes excluded
4. Male infertility associated with obstructive azoospermia, AND
a. CBAVD (or isolated CUAVD) diagnosed from expert clinical examination, OR
b. CBAVD identified at incidental herniotomy
5. Fetal echogenic bowel as bright as bone on 2nd trimester scan, AND
a. Both parents not available for carrier testing [if both parents are available, Cystic fibrosis carrier
testing should be used instead of an invasive prenatal test], AND
b. Isolated anomaly or <2 other common fetal markers, AND
c. Other more common causes excluded (e.g. IUGR, placental failure, earlier bleeding, infection, raised aneuploidy markers)
6. Dilated fetal bowel on 2nd trimester scan
Test code
R184.2
Test name
N/A
Target genes
CFTR
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Test in an individual clinically likely to be affected with cystic fibrosis:
1. Child with clinical suspicion of CF (e.g. recurrent chest infections, failure to thrive, fat malabsorption, neonatal history of meconium ileus), AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. An additional urgent prenatal situation for the parents or for a close relative, but urgent sweat
testing not accessible
2. Adult with CT-proven bronchiectasis, AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. Chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus, OR
c. Additional exocrine pancreatic dysfunction
3. Idiopathic chronic pancreatitis with exocrine dysfunction (fat malabsorption) with other obvious and acquired causes excluded, AND
a. A not normal sweat test performed in a recognised experienced test centre/laboratory (i.e. sweat chloride ≥30mM with sufficient sweat obtained), OR
b. Sweat testing not practical, and all other causes excluded
4. Male infertility associated with obstructive azoospermia, AND
a. CBAVD (or isolated CUAVD) diagnosed from expert clinical examination, OR
b. CBAVD identified at incidental herniotomy
5. Fetal echogenic bowel as bright as bone on 2nd trimester scan, AND
a. Both parents not available for carrier testing [if both parents are available, Cystic fibrosis carrier
testing should be used instead of an invasive prenatal test], AND
b. Isolated anomaly or <2 other common fetal markers, AND
c. Other more common causes excluded (e.g. IUGR, placental failure, earlier bleeding, infection, raised aneuploidy markers)
6. Dilated fetal bowel on 2nd trimester scan
Test code
R184.3
Test name
N/A
Target genes
CFTR
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
n/a
Commissioning group
Core
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