Disease

OMIM

Services offered externally*

Haemophilia A

306700

YES

Haemophilia B

306900

YES

Von Willebrand Disease

193400

YES

Protein S Deficiency

176880

YES

Protein C Deficiency

176860

YES

Antithrombin Deficiency

107300

YES

Factor XI Deficiency

264900

YES

Factor X Deficiency

227600

YES

Factor VII Deficiency

227500

YES

Factor V Deficiency

227400

YES

Combined FV & FVIII Deficiency

227300

YES

Fibrinogenaemia        (Dys-, Hypo- and A-)

202400

 YES

Bernard-Soulier syndrome

231200

YES

Glanzmann Thrombasthenia

273800

YES

Cystathionine -Synthase (CBS) gene

236200

YES

Prothrombin Deficiency

176930

YES

May-Hegglin anaomoly

155100

YES

Thrombophilia Risk Factors (Factor V Leiden, Prothrombin 20210 & MTHFR 677 SNPs)

227400.0001

176930.0009

607093.0003

YES

Apo E Genotype

107741

YES

Warfarin Resistance – CYP2A6

VKORC1

122720

608547

YES

Fetal sexing

YES