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.
References
- Rossetti et al., Clinical Chemistry, Volume 51, Issue 7, 1 July 2005, Pages 1154–1158.
- Bagnall et al., Blood (2002) 99 (1): 168–174.
- Wang et al., J Thromb Thrombolysis, 2020 May;49(4):591-601
Participation Fee:
3,250.00 INR
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 - 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
13,750 INR Per EQAS
- Haemophilia A
- Haemophilia B
- Beta Thalassemia
- Alpha Thalassemia
- Thrombophilia
Package 2 - Malignant Molecular Haematology
10,750 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
24,000 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