| BLEEDING AND COAGULATION DISORDERS |
| B5026 |
Genetic markers for Thrombosis
Screening of three mutations associated with thrombosis by PCR and RFLP.
1. Factor V Leiden 1691G>A mutation.
2. Prothrombin 20210G>A mutation.
3. MTHFR 677 C>T mutation.
|
9 mL Peripheral blood in EDTA (purple top)
tube. Stored at 4°C |
| B5049 |
Haemophilia-A (or) Haemophilia-B Mutation Screening
I. Molecular analysis of Factor (F8) gene polymorphic markers:
1. Intron 22 XbaI Restriction Fragment Length Polymorphism (RFLP
2. Intron 19 Hind III - RFLP
3. Intron 13 CA repeats by PCR and Genescan.
4. Intron 22 CA repeats by PCR and Genescan.
II. Mutation screening of Factor (F8) Gene:
5. Intron22 inversion by inverse PCR.
6. Intron1 inversion by inverse PCR.
7. Detection of (F8) gene mutations by Multiplex-PCR and Conformation Sensitive Gel electrophoresis (CSGE) followed by DNA sequencing.
III. Mutation screening of (F9) Gene:
8. Mutation screening of (F9) Gene by DNA sequencing.
| 9 mL Peripheral blood in EDTA (purple top)
tube. Stored at 4°C. |
| B5050 |
Haemophilia-A (or) Haemophilia-B Carrier diagnosis
Carrier diagnosis for Haemophilia by one of the above methods is planned only after identification of mutation for the proband. |
9 mL Peripheral blood in EDTA (purple top)
tube. Stored at 4°C. |
| B5048 & B5093 |
Prenatal Diagnosis of HAEMOPHILIA
1. Mutation screening for the first time
2. Mutation screening when prior genetic diagnosis of the disease is known.
|
Parents & Proband: 9 mL of EDTA anticoagulated peripheral blood (purple top) tube. Stored at 4°C.
Chorionic villus Sample – 10-11 weeks of gestation. Sample collected in 11.5ml eppendorf with 200µL saline-EDTA. |
| B5061 |
Mutation analysis of Rare bleeding disorders
Mutation screening for the appropriate rare bleeding disorder is done as required based on the clinical diagnosis and primary laboratory findings by DNA sequencing.
Rare bleeding disorders:
1.Factor I (Fibrinogen)
2.Factor II (Prothrombin)
3. Combined Factor V and Factor VIII
4. Factor V
5. Factor VII
6. Factor X
7. Factor XI
8. Factor XIII
9. Glanzmann's thrombasthenia (GT)
10. Bernard Soulier Syndrome (BSS)
11. Wiscott Aldrich Syndrome (WAS)
12. Von Willebrand disease (VWD)
13. Leukocyte adhesion deficiency (LAD)
14. Protein C & Protein S deficiency
|
9 mL Peripheral blood in EDTA (purple top) tube.
Stored at 4°C |
