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
- HLA typing by PCR
- Thalassemia genetic profile
- DNA Mutation for Beta Thalassemia
- DNA Mutation for Alpha Thalassemia
- DNA Mutation for Delta Beta Thalassemia
- Xmn 1 Polymorphism
- BCL 11 Polymorphism
- BCR-ABL Quantitative (Gene Expert)
- BCR-ABL Quantitative (P210 & P910)
- HCV RNA PCR (Quantitative & Qualitative)
- HBV RNA PCR (Quantitative & Qualitative)
- Factor-V Leiden Gene Mutation
- Cytomegalovirus Detection by PCR
- FLT-3 Mutation
- JAK-II Mutation (V617F)
- JAK-II Exon 12 Mutation
- Calreticulin
- Duchene Muscular Dystrophy (DMD) / Backer’s Disease
- PML RARA by PCR
- Mycobacterium tuberculosis (MTB) By PCR on Gene Expert
- Donor Chimerism
- Down’s Syndrome
Parental Diagnosis of Following Disorders.
- Beta Thalassemia
- Down’s Syndrome
- Hemophilia A & B
- Glanzmannthrombasthenia
Gene Sequencing Facility using Ticachi 3500 ABI Genetic Analyzer.
- Sequencing for Beta Thalassemia
- Sequencing for Osteoporosis
- Sequencing for NPM1 Mutation
- Sequencing for Coagulation factors (I, V, VII, VIII, VWF, IX, X, XI, XIII)
- Genetic Defects of Vitamin K
- Gentic Defects of Platelet like Glanzmannthrombasthenia, Bernard Soulier
- Sequencing of Protein C
- Sequencing of Protein S
Next Generation Sequencer
- Inherited Disorders Panel: This Helps in diagnosis and carrier identification of severe pediatric onset disorders
- Myeloid Panel: This sequencing panel specifically targets 54 genes involved in Myeloid Malignancies