Non-malignant haematology

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):

• R405 Hereditary erythrocytosis
• R406 Thrombocythaemia