Laboratory
Drosophila lab
Cytogenetics lab
The Cytogenetic Laboratory is a specialized diagnostic and research facility dedicated to the study of human chromosomes using samples such as blood, bone marrow, prenatal specimens, and products of conception (POC). The laboratory focuses on identifying chromosomal abnormalities that play a critical role in genetic disorders, infertility, and malignancies.
Equipped with modern infrastructure and adhering to standardized protocols, the laboratory ensures high accuracy, reliability, and quality in all diagnostic services.
Diagnostic Services:
- Peripheral Blood Karyotyping
- Fluorescence In Situ Hybridization (FISH)
Peripheral Blood Karyotyping
Peripheral Blood Karyotyping is a core service offered by the laboratory. It is a vital cytogenetic technique used to detect both numerical and structural chromosomal abnormalities.
This method enables the identification of:
- Aneuploidies (e.g., trisomies)
- Chromosomal deletions and duplications
- Structural rearrangements and translocations
Indications:
- Congenital anomalies and dysmorphic features
- Developmental delay and intellectual disability
- Disorders of sex development (DSD) / ambiguous genitalia
- Infertility evaluation
- Recurrent pregnancy loss
- Family history of chromosomal abnormalities
- Short stature or pubertal disorders
- Hematological disorders and malignancies
Fluorescence In Situ Hybridization (FISH)
Fluorescence In Situ Hybridization (FISH) is a highly sensitive molecular cytogenetic technique used to detect specific genetic abnormalities at the DNA level. It utilizes fluorescent probes that bind to targeted chromosomal regions, allowing precise visualization under a fluorescence microscope.
Applications:
- Prenatal genetic studies using blood, cord blood, and amniotic fluid
- Detection of common syndromes such as:
- Down syndrome
- Edward’s syndrome
- Patau syndrome
- Klinefelter syndrome
- Turner syndrome
Specialized FISH Testing:
- BCR/ABL1 FISH for hematological malignancies
- HER2/neu FISH for breast cancer diagnosis and prognosis
Academic and Training Role
In addition to diagnostic services, the Cytogenetic Laboratory serves as an academic and training center for undergraduate and postgraduate students. The facility provides hands-on training and promotes research in the field of human genetics, contributing to the development of future healthcare and research professionals.
Genome lab
Make : Cambrian Bioworks
Model: Manta
Automated DNA extraction Robot
- Fully automated system for isolation and purification of Nucleic acids from different biological sources
- Generates High quality Nucleic acid preparations for downstream processing NGS, qPCR.
- Enables simultaneous processing of 32 samples
- Reduces hands-on time to under 25-35 minutes for isolation and purification.
Make : Agilent (Affymetrix)
Model: FA5200
Automated Fragment Analyser — FA5200
- Automated capillary gel electrophoresis system for fragment sizing and quantification.
- Analyses DNA, RNA and proteins with high accuracy and speed in a 96-well format.
- RNA integrity number (RIN) equivalent scoring for RNA quality assessment.
- Used for NGS library quality control, microsatellite analysis and CRISPR editing confirmation.
- Simultaneous processing of up to 96 samples with automated capillary array filling.
- DNF-488 and other dye intercalation kits for broad analyte compatibility.
Make : Thermo Fisher Scientific
Model: A32006 – QuantStudio 5 Dx
Real-Time PCR — QuantStudio 5
- 96-well real-time PCR platform with 6-colour optical system for multiplexed detection.
- Compatibility with SYBR Green, TaqMan, High Resolution Melt (HRM) and digital PCR workflows.
- Applied in gene expression, SNP genotyping, copy number variation and viral load quantification.
- IVD-cleared version compliant with CE-IVD and FDA 510(k) for clinical diagnostic use.
- Fast mode cycling completes 40-cycle run in under 40 minutes.
- Connectivity Suite software for GLP compliance, audit trail and 21 CFR Part 11 documentation.
Make : Bio-Rad
Model: QX200 Droplet Reader / Generator
QX200 Droplet Digital PCR
- Digital PCR enabling absolute quantification of nucleic acids without standard curves.
- Partitions samples into 20,000 nanolitre droplets for statistical counting of target copies.
- Sensitivity down to 1 copy in 100,000 wild-type molecules for rare mutation detection.
- Applications: liquid biopsy, ctDNA quantification, GMO detection and viral load measurement.
- Two-channel FAM and HEX/VIC fluorescence detection for duplex assays.
- QX Manager Software with automated cluster calling and CNV analysis modules.
Make : Thermo Fisher Scientific
Model: SeqStudio Genetic Analyser
Capillary Electrophoresis Genetic Analyser — SeqStudio
- Sanger sequencing and fragment analysis on a single 4-capillary instrument.
- Up to four samples run simultaneously with automated polymer and capillary management.
- Dye set F covers BigDye™ Terminator v1.1, v3.1 for sequencing; ROX ladder for fragment analysis.
- Applied in mutation confirmation, STR genotyping, microsatellite instability and LOH analysis.
- Cloud-connected via SeqStudio Data Manager with automatic data backup.
- High-quality sequence data with Phred20 read lengths >900 bases.
Make : Thermo Fisher Scientific
Model: Ion Chef System
Automated Template Preparation — Ion Chef System
- Fully automated system for Ion Sphere Particle (ISP) preparation for Ion Torrent sequencing.
- Generates clonally-amplified ISPs from purified libraries using one-touch automation.
- Eliminates manual emulsion PCR for consistent template quality run-to-run.
- Supports Ion 520, 530, 540 and 550 chips for variable output requirements.
- Integrated barcode scanner for sample tracking and LIMS connectivity.
- Reduces hands-on time to under 5 minutes from library to loaded chip.
Make : Thermo Fisher Scientific
Model: Ion GeneStudio S5 Plus
Next-Generation Sequencer — Ion GeneStudio S5 Plus
- Semiconductor-based next-generation sequencer for targeted, amplicon and whole-genome sequencing.
- Supports Ion AmpliSeq™ panels for cancer, hereditary disease, pharmacogenomics and microbiome.
- Output range 0.3–15 Gb per run depending on chip selected (Ion 530, 540 or 550 chip).
- Automated library preparation with Ion Chef System for reproducible template preparation.
- On-instrument variant analysis with Torrent Suite software and Variant Caller plugin.
- Ideal for clinical oncology, genetic disease diagnostics and infectious disease surveillance.
Make : Affymetrix
Model: GeneChip™ System 3000Dx v.2
Microarray Scanner — GeneChip Scanner 3007G
- High-resolution confocal laser scanner for Affymetrix GeneChip microarray analysis.
- Dual-laser excitation (488 nm and 570 nm) for simultaneous two-channel scanning.
- Resolution: 0.7 µm for standard arrays; 5–0.7 µm dynamic range.
- Processes standard, small-format and custom Affymetrix GeneChip arrays.
- Integrated with GeneChip Fluidics Station 450 and Hybridisation Oven 654.
- Applied in gene expression profiling, SNP genotyping, copy number analysis and cytogenetics.
Make : Thermo Fisher Scientific
Model: Ion GeneStudio S5 Plus
Fluorescence Microscope - Zeiss Axio Imager Z2
- Upright automated fluorescence microscope for karyotyping and cytogenetic analysis.
- Motorised Z-drive with focus reproducibility of less than 0.1 µm for precise Z-stack acquisition.
- Apo-Chromat objectives with high NA for crisp, aberration-free images.
- ISIS karyotyping and FISH analysis software integration for chromosome analysis.
- Multi-band filter sets enabling simultaneous detection of 4+ fluorochromes.
- Applied in prenatal diagnosis, haematological malignancy and gene rearrangement studies.