DBT HEALTHCARE CYTOGENETIC LABORATORY

PRINCIPAL INVESTIGATOR: DR. G. Kusre
Department of Anatomy, Assam Medical College & Hospital, Dibrugarh
Co PI: Dr. Hirak Das
Department of Anatomy, Assam Medical College & Hospital, Dibrugarh
Date of initiation: 24th September 2009


Infrastructure Development

Cytogenetic laboratory under DBT Health care occupies an area of 10m2 equipped with Trinocular Microscope & support equipment System.

Diagnostic Service offered & Available
  • Karyotyping and cytogenetic analysis for congenital malformation, mental retardation, primary amenorrhoea.
  • Cancer cytogenetics

Ongoing Research Activity
  1. Cytogenetic analysis in case with hematological malignancy.
  2. Cytogenetic analysis of patients with primary amenorrhoea- a Hospital based study.

MD/MS Thesis work: Two MD thesis works under cytogenetic lab have been completed.




A Comprehensive Facility for Diagnosis and Management of Genetic Disorders


Patron

Dr. Ratan Kumar Kotokey
Principal-cum-Chief Superintendent

Principal Investigator

Dr. Hirak Das
Assistant Professor of Anatomy

Co-PI

 

  Dr. Giriraj Kusre Associate Professor of Anatomy
  Dr. Hemanta Dutta Associate Professor of Paediatrics Surgery
  Dr. Pritanu Deb Baruah  Assistant Professor of Anatomy
  Dr. Bibhas Gogoi Demonstrator of Pathology
  Dr. Kalyan Nath Registrar of Obs & Gynae
  Dr. Reeta Bora Associate Professor of Paediatrics
  Dr. Aditi Sarma Associate Professor of Pathology
  Dr. Anju Barhoi Teli Associate Professor, Department of Biochemistry
  Dr. Pranay Phukan Assistant Professor of Obs & Gynae
  Dr. Rumi Deori            Assistant Professor of Biochemistry
  Dr. Rita Panyang Kotoki Assistant Professor of Paediatrics
  Dr. Arpita Gogoi Assistant Professor of Paediatrics


AIMS AND OBJECTIVES

Objectives

Establishment of a start-of-the art “COMPREHENSIVE FACILITY FOR DIAGNOSIS AND MANAGEMENT OF GENETIC DISORDERS” at Assam Medical College, Dibrugarh (ASSAM).

The facility will include

  1. Cytogenetic Unit
  2. Molecular Genetic Unit
  3. Biochemical Genetic Unit
  4. Clinical Evaluation and Genetic Counselling Unit
  5. Bio-bank

Specific Objectives
  1. Cytogenetic Unit
    1. To establish a unit for enhanced diagnosis of chromosomal anomalies such as Down’s syndrome prenatally by AMNIOCENTESIS or chorionic villi sampling and using either Karyotyping or Fluoroscence in Situ Hybridization (FISH) techniques
    2. To study the numerical and structural abnormalities of chromosomes such as Down’s Syndrome, Klinefelter’s syndrome, Turner’s syndrome, Patau’s syndrome, Edwards Syndrome using Karyotyping techniques and FISH techniques.
    3. To study chromosomal anomalies associated with Leukemias
  2. Molecular Genetics Unit
    1. To study common single gene disorders e.g. Hemoglobinopathies, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Fragile X Syndrome, Haemophilia etc.
    2. To provide carrier screening to extended family of the children affected with hemoglobinopathies and muscular dystrophies.
    3. To diagnose single gene disorders such as β-Thalassemia, sickle cell anaemia prenatally
  3. Genetics Unit
    1. Antenatal Screening for Down’s syndrome in first and second trimester of pregnancy by estimation of Alpha Feto Protein (AFP), Estriol and β-HCG in maternal serum.
    2. To start new-born screening program for Glucose-6-Phosphate Dehydrogenase deficiency (G6PD deficiency)
  4. Clinical Evaluation and Genetic Counselling Unit
    1. Establishment of counselling services for genetic diseases
    2. Establishment of teaching programme in medical genetics
    3. Regular CME for doctors of government and non-government health care sectors
    4. Community awareness programme
  5. Establishment of Bio-Bank
    1. Establishment of DNA Bank for future research and references
Activities
  • Karyotyping from blood sample for diagnosis of congenital malformation like Down’s syndrome
    Klinefelter’s syndrome, Turner’s syndrome, Patau’s syndrome, Edward’s syndrome etc. are being done..
  • Cost of investigation for Karyotyping:
  • PRICE

    CATEGORY

    Rs.1000

    For general people

    Rs. 300

    For BPL people

  • Mutational studies for Thalassemia have been going on.
  • Investigations in standardization phase :
  • DISEASE

    TYPES OF MUTATION

    DMD

    Detection of deletion and duplication.

    HAEMOPHILIA

    VNTR (Intron 13,22, 5΄ franking region), RFLP Intron 18, 19.

    SICKLE CELL

    Detection of point mutation.

    THALASSEMIA

    Detection of β- Thalassemia mutation.



BIOBANK
 
  CYTOGENETIC WORK STATION THERMAL CYCLER
 
  GEL DOCUMENTATION SYSTEM HORIZONTAL GEL ELECTROPHORESIS SYSTEM
 
  DEEP FREEZER (-20O C)
  • DNA samples are stored for future investigation.


Clinical Evaluation and Genetic Counseling Unit
  • Genetic counseling was started at the Dept of Pediatrics, AMCH in April 2013. Counseling is held on every Tuesday (9am to 1pm)
  • Patients with suspected chromosomal anomaly, Thalassemia / sickle cell disease (AR),DMD/ Hemophilia (X-Link), Unexplained MR, Dysmorphism are counseled.
  • Patients with suspected chromosomal anomaly are sent to the cytogenetic unit for karyotyping.