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
SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old