Haemophilia and thrombophilia genetics

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Alpha Thalassaemia – multiplex PCR and HBA MLPA for large deletions

Test name
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Known Genotype)
Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Unknown Genotype)
Factor VII Deficiency – F7 Gene Variant Analysis (Known Genotype)
Factor VII Deficiency – F7 Gene Variant Analysis (Uknown Genotype)
Factor VIII (F8) Severe Haemophilia A – common 1/22 intron inversion
Factor X Deficiency – F10 Gene Variant Analysis (Known Genotype)
Factor X Deficiency – F10 Gene Variant Analysis (Unknown Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Known Genotype)
Factor XI Deficiency – F11 Gene Variant Analysis (Unknown Genotype)
Haemophilia A (Severe) – Factor VIII (F8) common 1/22 intron inversion
Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A Variant Analysis (Unknown Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of unknown variants for F8 gene
Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B Variant Analysis (Uknown Genotype) – Sequence analysis of known variants for F9
Protein C Deficiency – PROC Gene Variant Analysis (Known Genotype)
Protein C Deficiency – PROC Gene Variant Analysis (Uknown Genotype)
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Unknown Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Known Genotype)
Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Unknown Genotype)