Clinical Indication ID & Name
Primary lymphoedema
Test Group
Cardiology
Specialties
Test code
R136.1
Test name
N/A
Target genes
Primary lymphoedema (65)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Primary lymphoedema with or without syndromic manifestations, with no known explanation
If in doubt whether testing is indicated, refer for specialist investigation to a specialist clinic such as those based in Derby or at St Georges Hospital in London
Test code
R136.2
Test name
N/A
Target genes
Primary lymphoedema (65)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Primary lymphoedema with or without syndromic manifestations, with no known explanation
If in doubt whether testing is indicated, refer for specialist investigation to a specialist clinic such as those based in Derby or at St Georges Hospital in London
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