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
Provided by Oxford Regional Genetics Laboratories; 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
Provided by Oxford Regional Genetics Laboratories.
- 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
(Provided by Oxford Regional Genetics Laboratories); please complete a genotype referral form or prenatal referral form as appropriate (see referral forms).
- R361 Haemoglobinopathy trait or carrier testing - see haemoglobinopathies
- R362 Carrier testing for sickle cell disease - see haemoglobinopathies
- R93 Thalassaemia and other haemoglobinopathies - see haemoglobinopathies
- R94 HbSS variant targeted mutation testing - see haemoglobinopathies
- Sickle cell and thalassaemia screening programme lab support service
Anaemia and cytopenia
(Provided by Oxford Regional Genetics Laboratories); 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
(Provided by Oxford Regional Genetics Laboratories); please complete a referral form (see referral forms):
