Molecular Genetics Department

Home Departments Molecular Genetics Department

Molecular Genetics / Cytogenetics Department

The Molecular Genetics/Cytogenetics Department at Chughtai Lab is dedicated to prenatal screening and molecular diagnosis of genetic disorders across all age groups. Our facility serves not only individuals with known genetic conditions but also those seeking proactive health screening. Additionally, we offer opportunities for training and research.

Our department specializes in utilizing cutting-edge molecular technologies for a wide range of applications, including:

Screening for Chromosomal Aberrations
Identification of pathogenic mutations in single-gene disorders
Identification of disease-related mutations in targeted gene panels, and across the entire exome or genome

Technologies Used

We employ a variety of advanced technologies, including:

Next Generation Sequencing (NGS)
Sangers DNA Sequencing
Real Time PCR (RT-PCR)
End Point Polymerase Chain Reaction (PCR)
Karyotyping and Cytogenetic Analysis
Fluorescent In-situ Hybridization (FISH)
Reverse Sequence Specific Oligonucleotide Polymerase Chain Reaction (RSSO PCR)

Current Parameters

Our current parameters cover a broad spectrum of cytogenetic and molecular genetic analyses, including:

Cytogenetics:

Chromosomal Analysis/Karyotyping from Blood (Test Code: 3519)
Cytogenetic Study for Hematological Malignancies from Bone Marrow or Peripheral Blood (Test Code: 3528)
Chromosomal Breakage Analysis for Fanconi’s Anemia (Test Code: 1384)
BCR-ABL Fusion Detection by FISH (Test Code: 3531)
PML-RARA Fusion Detection by FISH (Test Code: 3530)
HER2 Amplification Detection by FISH (Test Code: 3485)
TP53 Gene Mutation Detection by FISH (Test Code: 5544)

Molecular Genetics:

BCR-ABL p210 Quantitation by PCR (Test Code: 4625)
JAK-2V617F Mutation Detection by PCR (Test Code: 4150)
JAK-2 Exon 12 Mutation Analysis (Test Code: 6017)
HLA B*27 Allele Detection by PCR (Test Code: 4646)
EGFR Gene Mutation Analysis (Test Code: 1622)
PIK3CA Gene Mutation Analysis (Test Code: 4653)
NPM1 Gene Mutation Analysis (Test Code: 1381)
Factor V Leiden (FVL) Mutation Detection by PCR (Test Code: 1343)
HLA Claas I & II HLA Tissue Typing (Test Code: 9001 and 9002)
HLA Tissue Typing: Class I only (Test Code: 9734 and 5565)
HLA Tissue Typing: Class II only (Test Code: 4716 and 5566)
Beta Thalassemia Gene Sequencing (Test Code: 5006)
CFTR F508del Mutation Detection for Cystic Fibrosis (Test Code: 1718)
HLA DQ2 & DQ8 Allele Detection for Celiac Disease (Test Code: 9019)
HTT Genetic Analysis for Huntington’s Disease (Test Code: 1341)
SMN Genetic Analysis for Spinal Muscular Atrophy (SMA) (Test Code: 1342)
FLT3 Gene Mutation Analysis (Test Code: 4714)
BRCA1/2 Genetic Analysis by Next Generation Sequencing (Test Code: 4156)

Research Parameters

DNA Extraction from Blood through kit for Research (Test Code: 0067)
DNA Extraction from FFPE for Research (Test Code: 0068)
DNA Quantification for Research (Test Code: 0069)
Conventional PCR Amplification with Gel Electrophoresis for Research (Test Code: 0070)
DNA Sequencing with Purification for Research (Test Code: 0071)

Looking ahead, we are committed to expanding our repertoire of molecular genetics assays.

Blood Bank

Blood Bank is a vital component of patient care, operating on the principle of commitment to safety, precision, and efficiency. The department is staffed round-the-clock by a dedicated team of consultant hematologists, skilled medical technologists and trainee residents ensuring seamless support for both routine and emergency transfusion needs.

We work in close coordination with clinical teams to provide timely and compatible blood products, adhering to stringent quality and safety protocols. Patient and physician concerns are handled with the utmost attention, and our medical staff takes the time to offer expert guidance on transfusion-related queries.

To guarantee the safety and integrity of every unit of blood, we utilize state of the art testing technology. High-end equipment allows us to perform precise blood group matching, including extended antigen typing when required and delivers a safe NAT tested blood to those in need.

Our Blood Bank offers a comprehensive range of services, including:

Whole Blood and Component Preparation (Packed Red Cells, Platelets, Plasma, Cryoprecipitate)
ABO and Rh Typing
Crossmatching
Red blood cell phenotyping
Antibody Screening and Identification
Direct and Indirect Coombs Test
NAT (Nucleic Acid Testing) for HIV, HBV, and HCV
Syphilis and Malaria Screening
Apheresis Services (Plateletpheresis)
Blood Inventory Management
In addition to blood bank services Transfusion services are also provided ensuring the safe and appropriate use of blood and blood components. It also ensures hemovigilance and transfusion reaction reporting, in line with the best practices to promote patient safety and continual quality improvement.

The department also plays a strong academic and research role. We actively engage in research and innovation, with multiple papers published in peer reviewed journals and participation in national and international academic forums.

Our Blood Bank stands as a model of excellence for combining clinical expertise, cutting-edge technology, and a deep commitment to education, safety, and patient centered care.