Molecular Genetics

The department of Molecular Genetics has recently been established at Chughtai Lab for the prenatal screening and molecular diagnosis of genetic disorders in children and adults. This facility may also be used for screening of healthy individuals as well as for training and research.
The molecular genetics department will focus on the implementation of the latest molecular technologies for the following applications:
• Testing for Chromosomal Aberrations
• Detection of pathogenic mutations in the single gene disorders
• Prenatal screening and detection of disease related mutations in targeted gene panels and across the entire genome using Next Generation Sequencing (NGS) technology

Technologies used

• Next Generation DNA Sequencing (NGS)
• Sanger’s DNA sequencing
• Real-Time Polymerase Chain Reaction (RT-PCR)
• End Point Polymerase Chain Reaction (PCR)
• Karyotyping and Cytogenetic Analysis
• Fluorescence In-situ Hybridization (FISH)

Current Parameters

• BCR-ABL Quantitative PCR Assay
• HLA B-27 PCR
• JAK-2V617F Mutation Detection
• BRAF Genetic Mutation Analysis
• KRAS Genetic Mutation Analysis
• EGFR Genetic Mutation Analysis
• BCR-ABL Fusion Detection by FISH
• Karyotyping and chromosomal analysis (Cytogenetics)
In future, we will keep on adding new molecular genetics assays in our list e.g., BRCA1/BRCA2 NGS Panel, Cancer Hotspot NGS Panel, Prenatal Genetic Screening NGS Panel, Beta-Thalassemia Gene Sequencing etc.