Molecular Genetics / Cytogenetics Department

The department of Molecular Genetics has 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 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 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 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


  • Chromosomal Analysis/Karyotyping from Blood
  • Chromosomal Analysis/Karyotyping from Bone Marrow
  • Chromosomal Breakage Analysis for Fanconi’s Anemia
  • PML-RARA Fusion Detection by FISH
  • BCR-ABL Fusion Detection by FISH
  • HER2 Amplification Detection by FISH

Molecular Genetics

  • BCR-ABL (p210) Quantitation by PCR
  • BCR-ABL (p190) Quantitation by PCR
  • JAK-2V617F Mutation Detection by PCR
  • HLA B*27 Allele Detection by PCR
  • EGFR Gene Mutation Analysis
  • KRAS Gene Mutation Analysis
  • BRAF Gene Mutation Analysis
  • PIK3CA Gene Mutation Analysis
  • NPM1 Gene Mutation Analysis
  • Factor V Leiden (FVL) Mutation Detection by PCR
  • Factor II Gene Mutation Detection
  • HLA 1 & 2 (Patient) HLA Tissue Typing
  • HLA 1 & 2 (Doner) HLA Tissue Typing
  • HLA Tissue Typing (Class I)
  • HLA Tissue Typing (Class II)
  • BRCA1/2 Genetic Analysis by NGS
  • Cancer Hotspot Genetic Analysis by NGS
  • Beta Thalassemia Gene Sequencing
  • CFTR F508del Mutation Detection for Cystic Fibrosis
  • HLA DQ2 & DQ8 Allele Detection for Celiac Disease
  • HTT Genetic Analysis for Huntington’s Disease
  • SMN Genetic Analysis for Spinal Muscular Atrophy (SMA)
  • FLT3 Gene Mutation Analysis

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.

Molecular Genetics / Cytogenetics Department

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