Clinical Indication ID & Name
R188
Pulmonary arterial hypertension
Test Group
Respiratory
Specialties
Test code
R188.1
Test name
N/A
Target genes
Pulmonary arterial hypertension (193)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Idiopathic PAH or suspected Familial/Heritable Pulmonary Arterial Hypertension (PAH)
Test code
R188.2
Test name
N/A
Target genes
BMPR2
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Idiopathic PAH or suspected Familial/Heritable Pulmonary Arterial Hypertension (PAH)
Commissioning group
Specialised
Overlapping idications
• R186 Hereditary haemorrhagic telangiectasia test should be used in patients with PAH and HHT
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