Haemophilia B

Last Updated Feb 4, 2022

Haemophilia B is an X-linked disorder with an incidence of 1 in 25000 males. There are no common molecular defects in the FIX gene.  The molecular defects observed are missense variants, gross deletions/duplications. These are screened initially by DNA sequencing; and if negative, fragment analysis is performed.

Approach to Hemophilia B

References

  1. Rossetti et al., Clinical Chemistry, Volume 51, Issue 7, 1 July 2005, Pages 1154–1158.
  2. Bagnall et al., Blood (2002) 99 (1): 168–174.
  3. Wang et al., J Thromb Thrombolysis, 2020 May;49(4):591-601

Note : The above methodology describes the approach to diagnosis followed in CMC, Vellore. This is not a recommendation or guidelines, participants are free to choose their own methodology(ies).

Participation Fee : 3000 INR

Participation Fee - As package

If you choose to participate in assessments by choosing them as a package, here is the pricing. You can choose any ONE package and can choose any other assessment individually that does not include in your chosen package.

Package 1 - Benign Molecular Haematology

12,500 INR Per EQAS

  • Haemophilia A
  • Haemophilia B
  • Beta Thalassemia
  • Alpha Thalassemia
  • Thrombophilia

Package 2 - Malignant Molecular Haematology

9,500 INR Per EQAS

  • JAK2 V617F
  • NPM1/FLT3 ANALYSIS
  • RT PCR BCR-ABL1/PML-RARA
  • FISH for t(9;22)(q34;q11) BCR::ABL1

Package 3
All the tests

21,500 INR Per EQAS

  • Haemophilia A
  • Haemophilia B
  • Beta Thalassemia
  • Alpha Thalassemia
  • Thrombophilia
  • JAK2 V617F
  • NPM1/FLT3 ANALYSIS
  • RT PCR BCR-ABL1/PML-RARA
  • FISH for t(9;22)(q34;q11) BCR::ABL1
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