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:


  • 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)
  • Factor II Gene Mutation Detection (Test Code:7913)
  • 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) 
  • Cancer Hotspot Genetic Analysis by Next Generation Sequencing (Test Code: 3537) 

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


Dr. Saadat Ali

MPhil, PhD (Molecular Genetics) 


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