Clinical Indication ID & Name
Hereditary Erythrocytosis
Test Group
Haematology
Specialties
Test code
R405.1
Test name
N/A
Target genes
Hereditary Erythrocytosis (157)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Clinical features of a likely erythrocytosis of monogenic aetiology
2. Exclusion of secondary causes of erythrocytosis and acquired bone marrow disorders such as myeloproliferative neoplasm
Test code
R405.2
Test name
N/A
Target genes
Hereditary Erythrocytosis (157)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Clinical features of a likely erythrocytosis of monogenic aetiology
2. Exclusion of secondary causes of erythrocytosis and acquired bone marrow disorders such as myeloproliferative neoplasm
Commissioning group
Specialised
Overlapping idications
• M85 Myeloproliferative neoplasm should be used for somatic testing for exclusion of acquired myeloproliferative neoplasm
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