Clinical Indication ID & Name
Pulmonary alveolar microlithiasis
Test Group
Respiratory
Specialties
Test code
R426.1
Test name
N/A
Target genes
SLC34A2
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical suspicion/diagnosis of PAM including presence of diffuse intra-alveolar microliths, typically with widespread nodular calcification, on chest imaging.
Test code
R426.2
Test name
N/A
Target genes
SLC34A2
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical suspicion/diagnosis of PAM including presence of diffuse intra-alveolar microliths, typically with widespread nodular calcification, 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