About the Division

The division of Genomics and NIBD brings clinical care together with research using latest technologies.
The genomics department of NIBD provides services for individuals and their families who are affected by or at risk of a disorder with a significant genetic component.

Diagnostic Services and Testing.

Molecular Pathology test profile

  1. HLA typing by PCR
  2. Thalassemia genetic profile
  3. DNA Mutation for Beta Thalassemia
  4. DNA Mutation for Alpha Thalassemia
  5. DNA Mutation for Delta Beta Thalassemia
  6. Xmn 1 Polymorphism
  7. BCL 11 Polymorphism
  8. BCR-ABL Quantitative (Gene Expert)
  9. BCR-ABL Quantitative (P210 & P910)
  10. HCV RNA PCR (Quantitative & Qualitative)
  11. HBV RNA PCR (Quantitative & Qualitative)
  12. Factor-V Leiden Gene Mutation
  13. Cytomegalovirus Detection by PCR
  14. FLT-3 Mutation
  15. JAK-II Mutation (V617F)
  16. JAK-II Exon 12 Mutation
  17. Calreticulin
  18. Duchene Muscular Dystrophy (DMD) / Backer’s Disease
  19. PML RARA by PCR
  20. Mycobacterium tuberculosis (MTB) By PCR on Gene Expert
  21. Donor Chimerism
  22. Down’s Syndrome

Parental Diagnosis of Following Disorders.

  1. Beta Thalassemia
  2. Down’s Syndrome
  3. Hemophilia A & B
  4. Glanzmannthrombasthenia

Gene Sequencing Facility using Ticachi 3500 ABI Genetic Analyzer.

  1. Sequencing for Beta Thalassemia
  2. Sequencing for Osteoporosis
  3. Sequencing for NPM1 Mutation
  4. Sequencing for Coagulation factors (I, V, VII, VIII, VWF, IX, X, XI, XIII)
  5. Genetic Defects of Vitamin K
  6. Gentic Defects of Platelet like Glanzmannthrombasthenia, Bernard Soulier
  7. Sequencing of Protein C
  8. Sequencing of Protein S

Next Generation Sequencer

  1. Inherited Disorders Panel: This Helps in diagnosis and carrier identification of severe pediatric onset disorders
  2. Myeloid Panel: This sequencing panel specifically targets 54 genes involved in Myeloid Malignancies