Clinical Indication ID & Name
Pneumothorax - familial
Test Group
Respiratory
Specialties
Test code
R190.1
Test name
N/A
Target genes
Pneumothorax - familial (105)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Primary spontaneous pneumothorax with no identifiable cause, AND one of:
• A first degree relative with primary spontaneous pneumothorax, OR
• Characteristic radiological features of Birt-Hogg-Dubé syndrome on chest imaging
Test code
R190.2
Test name
N/A
Target genes
Pneumothorax - familial (105)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Primary spontaneous pneumothorax with no identifiable cause, AND one of:
• A first degree relative with primary spontaneous pneumothorax, OR
• Characteristic radiological features of Birt-Hogg-Dubé syndrome on chest imaging
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
Rare Disese WGS Clinician pack
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