NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.
Testing for previously identified familial variants, as clinically appropriate, is available.
Haemostasis disorders
Please complete a referral form (see referral forms).
- R90 Bleeding and platelet disorders panel
- R117 Factor VIII deficiency (Haemophilia A) - see single haemostasis genes
- R118 Factor IX deficiency (Haemophilia B) - see single haemostasis genes
- R121 Von Willebrand disease - see single haemostasis genes
- R112 Factor II deficiency - see single haemostasis genes
- R115 Factor V deficiency - see single haemostasis genes
- R116 Factor VII deficiency - see single haemostasis genes
- R119 Factor X deficiency - see single haemostasis genes
- R120 Factor XI deficiency - see single haemostasis genes
- R122 Factor XIII deficiency - see single haemostasis genes
- R123 Combined vitamin K-dependent clotting factor deficiency - see single haemostasis genes
- R124 Combined Factor V and VIII deficiency - see single haemostasis genes
- Factor V Leiden and common Prothrombin mutation analysis
- R97 Thrombophilia with a likely monogenic cause panel
The following gene screens are also available for non-English referrals:
- PROC
- PROS1
- SERPINC1
- FGA/FGB/FGG
- MYH9/GP1BA/GP1BB
- ITGA2B/ITGB3
Iron metabolism disorders
- R95 Iron overload - hereditary haemochromatosis testing (HFE genotyping)
- R96 Iron metabolism disorders - NOT common HFE mutations; please complete a referral form (see referral forms).
Haemoglobinopathies
Please complete a genotype referral form or prenatal referral form as appropriate (see referral forms).
- R361 Haemoglobinopathy trait or carrier testing - see haemoglobinopathies
- R93 Thalassaemia and other haemoglobinopathies - see haemoglobinopathies
- Sickle cell and thalassaemia screening programme lab support service
If haemoglobinopathy genetic testing is required and haemoglobinopathy screening has not yet been carried out, please send an EDTA blood sample to the Haematology Laboratory at the John Radcliffe Hospital (address below).
Once the haematology tests are complete, the sample will be transferred to the Churchill for genetic testing.
Haemoglobinopathy Screening
Haematology Laboratory
Level 4, John Radcliffe Hospital
Oxford OX3 9DU
Anaemia and cytopenia
Please complete a referral form (see referral forms):
- R92 Rare anaemia
- R91 Cytopenia - NOT Fanconi anaemia
- R229 (also R285.2) Confirmed Fanconi anaemia or Bloom syndrome
- R259 Nijmegen breakage syndrome
- R313 Neutropenia consistent with ELANE mutations
- R338 Monitoring for G(M)CSF escape mutations
Erythrocytosis and thrombocythaemia
Please complete a referral form (see referral forms):
