Non-Invasive Prenatal Testing (NIPT)

Pharmalab provides two complementary screening solutions to meet more of our lab customers’, clinicians’ and pregnant women’s needs across different international locations.

The IONA® test is the first CE marked in vitro diagnostic (IVD) for prenatal screening which allows clinical laboratories around the world to establish their own quality assured non-invasive prenatal screening service.  The IONA® test is registered as a regulated IVD in many different regions. The IONA® test is available as a service from Pharmalab accredited laboratories.

The Sage™ prenatal screen is available in additional regions where a regulated NIPT is not required for trisomy screening. Sage™ provides highly accurate screening results for a greater clinical depth of chromosomal conditions including trisomies, sex chromosomal aneuploidies, autosomal aneuploidies and some select microdeletions.

Features The IONA test® (CE-IVD) Sage ™ prenatal screen
Clinical content:
• Trisomy 21,18,13 ✓ ✓
• Sex chromosomal aneuploidies ✓
• Autosomal aneuploidies ✓
• Microdeletions ✓
• Fetal sex determination-optional ✓ ✓
CE-IVD ✓
Fully automated workflow ✓
NIPT service available from accredited laboratory services ✓ ✓
MyNIPT® sample tracking & reporting portal ✓
Suitable for low to high throughput labs ✓
Minimum fetal fraction required ≥2% ≥3.5%
Technical support and lab installation ✓✓✓ ✓

Molecular Genetics

Genotyping

Pharmalab offers A range of different platforms, that can be used for reliable genotyping of any number of SNPs from just a few up to several million, thus supporting projects of all sizes from small scale to large scale discovery, validation, and screening projects. Pharmalab also provides solutions for the most exciting genotyping areas, such as CNV analysis, microsatellite typing, and DNA fingerprinting.

Our services included Genotyping, Copy number variations (CVNs) and Microsatellite Genotyping.

Microarray

Pharmalab offers a wide range of microarray solutions for your gene expression studies including pre-designed and custom arrays using either Affymetrix or Agilent platforms.

Our services included SNP Microarrays and Gene Expression.

Next Generation Sequencing

Pharmalab is leading provider of commercial sequencing, offering Next Generation Sequencing (NGS) services using the latest platforms, including the Illumina’s NovaSeq, NextSeq & MiSeq. We offer both standard and custom services for extraction, library preparation, sequencing, and bioinformatics.

We provide a fully bespoke NGS service, which uses a dedicated team of highly qualified and experienced NGS Scientists and operates through a robust and highly audited quality management system.

Our strong team of scientists and engineers provide support at every step of your project, including free consultations, real-time updates, and post-delivery assistance.

Bioinformatic Solutions

Pharmalab offers a range of bioinformatics & computational analysis options to help researchers within academia, healthcare diagnostics and industries in the interpretation of their data. We understand the need for biological and clinical data analysis and support.

Our Bioinformatic services included Variant Analysis, Exome Analysis, Transcriptome Analysis, De Novo Assembly, Metagenome Analysis.