Array CGH allows high-resolution genome-wide screening of segmental genomic copy number variations (CNVs) and uniparental disomy studies by (CGH and SNP’s).

Applications: cancer genomics, global developmental delay, intellectual disability, autism, multiple congenital anomalies and dimorphisms.

Scanner ArrayCGH Agilent. Model G2505C

Where can I perform an array CGH?

Citogenetics and Genomics Lab

DNA Microarray Scanner – SureScan High-Resolution Technology (Agilent Technologies)

Next-Generation Sequencing (NGS)

What can I do in a NGS platform?

Multiple target resequencing for hereditary diseases

Characterization of cancer genetic profile

Liquid Biopsy

NIPT

Donor-Derived Cell-Free DNA for allograft rejection screening (IPST)

Exome sequencing (NextSeq 550)

RNA Seq

Metagenomics (16srRNA and shotgun)

Whole genome sequencing of virus and bacteria

Genotyping profiles

HLA high resolution typing (IPST)

Spatial transcriptomics (NextSeq 500)

Single cell RNASeq (NextSeq 500)

Methylation analysis (bisulfite sequencing)

Ion Chef™ Instrument (for automated library preparation, template preparation, and chip loading in NGS protocols from ThermoFisher)

Illumina MiSeq for NGS sequencing

Where can I find a NGS platform?

Citogenetics and Genomics Lab

MiSeq (Illumina) | Next Seq 500 (Illumina)

Institute of Anatomy and Molecular Pathology

Ion PGM (Thermo Fisher) | Genexus (Thermo Fisher)

Sequencing and Functional Genomics Lab

MiSeq (Illumina) | S5Plus & Ion Chief automated platform (Thermo Fisher)

Portuguese Institute of Blood and Transplantation of Coimbra (IPST)

S5Plus & Ion Chief automated platform (Thermo Fisher)

Idylla

What can I do in Idylla?

Idylla™ is a fully automated, real-time Polymerase Chain Reaction (PCR) based molecular diagnostics system. It detects and quantifies multiple DNA or RNA-based variants in a wide variety of patient sample types, including formalin-fixed paraffin-embedded (FFPE) tissues and blood.

Main applications: characterization of tumor genetic profile, liquid biopsy.