December 2014 Issue

New Era for Clinical Diagnostics


Analyze this clinical


Next Generation Sequencing meets Diagnosticspgm dx fda

Genetic information is rapidly transforming the future of healthcare by enabling accurate and affordable diagnosis and prognosis, targeted treatments, and monitoring solutions.

The Ion PGM™ Dx System brings the power of next-generation sequencing (NGS) into your diagnostic laboratory. This reliable sequencing platform combines key workflow advantages designed specifically for regulated laboratory environments and in vitro diagnostic applications with the speed and simplicity of the Ion Torrent™ platform.

Key benefits

  • A complete NGS instrument system developed under design control and intended for targeted sequencing of human genomic DNA from peripheral whole blood samples. Includes the following: Ion PGM™ Dx Sequencer, Ion OneTouch™ Dx Instrument, Ion OneTouch™ ES Dx Instrument, Ion PGM™ Dx Chip Minifuge, and Ion Torrent™ Server with Ion PGM™ Dx Torrent Suite™ Software
  • Validated using challenging germline variants, with library kits based on proven Ion AmpliSeq™ technology, enabling accurate and reliable genetic analysis from more clinical samples, even with a limited amount of DNA
  • Enables 21CFR part 11 compliance, offering role-based workflows,sample and reagent tracking, QC metrics, and audit trail
  • Includes in-run control for automatic assessment of run successes
  • Optimized data analysis workflows developed for targeted DNA sequencing that enables assay developers to publish protocols that are run in a locked workflow environment, from library construction to variant calling*
  • Supports key applications such as targeted DNA sequencing, and SNP and indel analysis

Learn more.

Streamline Next Generation Sequencing Workflows

vELAVela Diagnostics provides the first solution combining PCR and NGS in an automated workflow. Vela Diagnostics is the first to have a full NGS workflow with IT connectivity, sample reporting and automation.

  • Integrated, streamlined workflow
  • Open Channel capabilities
  • Small footprint
  • Connectivity to LIMS, Full traceability
  • Accurate, reliable and reproducible
  • User friendly software


The Vela Diagnostics NGS System and the Sentosa® SX101 automated pipetting system form the Sentosa® Next-Generation Sequencing (NGS) workflow – the first automated NGS workflow currently available in the market.

  • Hours of manual processes reduced to minutes
  • Improve efficiency, minimize error and increase consistency
  • Free tech time, optimize NGS workflow and increase throughput.


Sentosa Platform provides

  • A user and sample-independent workflow
  • Reduced sample-to-sample variability
  • Less process risk of reruns due to user error/inconsistency
  • User friendly, easy-to use software

Vela Diagnostics Assay Portfolio

  • Respiratory Infections
  • Gastroenteritis
  • Microbiology
  • Immunosuppression
  • Oncology
  • Leukemia
  • Blood Borne Viruses
  • Tropical Infections
  • STD
  • DNA/RNA Amplification
  • Virology
  • Melanoma

Read more.

Chromsystems kits for clinical diagnostics

Chrom cert

Chromsystems is a leading global company providing ready-to-use reagent kits and supplies for routine clinical diagnostics by high performance liquid chromatography and tandem mass spectrometry. The product portfolio includes complete kits as well as quality controls and calibrators, all ensuring highly accurate as well as cost-effective analysis in the laboratory. Chromsystems‘ products are also CE-IVD compliant, satisfying regulatory requirements for the laboratory.

Steroid hormones are structurally derived from cholesterol and play a role in a wide range of physiological processes, including carbohydrate metabolism, fat and protein metabolism and in stress response. The determination of parameters is vital for the diagnosis of a number of diseases such as adrenogenital syndrome, tumours or hyperaldosteronism.

The MassChrom® Steroid reagent kit allows the quantitative determination of 13 steroid hormones in serum/plasma by LC-MS/MS and includes the clinically most important parameters. Sample preparation is the same for both steroid panels using a solid phase extraction in 96 SPE well plates. The use of stable isotope-labelled internal standards for every single analyte ensures reproducible and reliable quantitation of the steroids. The method also does not require a high-end LC-MS/MS system to be carried out.

Read more about MassChrom® Steroids.

Newborn screening (NBS) is the practice of testing every newborn for certain harmful or potentially fatal disorders that are not otherwise apparent at birth. In general, disorders related to protein and fat metabolism can hinder an infant’s normal physical and mental development in a variety of ways.

The benefits to society of early diagnosis of these disorders are considerable; initiation of treatment prior to onset of symptoms can avoid permanent neurological impairment and more importantly saves lives.

The Chromsystems reagent kit for the determination of amino acids and acylcarnitines from dried blood spot samples using tandem mass spectrometry is intended for the early diagnosis of amino acid and fatty acid metabolic disorders during newborn screening.

  • Ready-to-use kit, includes all reagents and quality controls
  • Dried Blood Spot Controls
  • Reagents stable after reconstitution (min. 3 weeks refrigerated)
  • Fast sample preparation: 20 min no derivatization, 95 min incl. succinylacetone, 60 min excl. succinylacetone
  • Tuning mix available
  • 27 isotopically labelled internal standards including Arg, Asp, Glu and Orn
  • No carcinogens during sample preparation

Read more about MassChrom® Amino Acids and Acylcarnitines.

Vitamin D has been widely recognised as a biomarker in relation to osteoporosis and osteopenia. It has also been shown to play a prominent role in immune response, cardiovascular disease and certain types of cancer. Vitamin D analysis, therefore, carries significance in several respects.

25-OH-vitamin D3 constitutes the principal diagnostic target and is the main metabolite of vitamin D in humans; it is the precursor of the physiologically most active compound 1,25-(OH)2-Vitamin D3. Vitamin D deficiency is treated with vitamin D3 or vitamin D2 supplementation.

This reagent kit allows for the specific analysis of 25-OH-vitamin D3 and 25-OH-vitamin D2 in serum and plasma by tandem mass spectrometry.

  • Isotopically labelled internal standard
  • Multilevel calibrators
  • Online sample preparation
  • Upgrade available for the dermination of 3-epi-25-OH-Vitamin D3/D2

Read more about MassChrom® 25-OH-Vitamin D3

Events in Town in December 2014

Dec 2014 event update

Workshop on Next generation Sequencing Techniques and Hands-on Bionformatics was organized in UKM Medical Molecular Biology Institute (UMBI) on the 1st and 2nd December.

This workshop was designed to introduce the concept of NGS in routine DNA diagnostic and to provided participants the exposure to NGS data analysis and results interpretation.

Dr. Marcel Nelen, a clinical laboratory geneticist heading the Core Genome Analysis Laboratory of the Human Genetics Department at the Radboud University Medical Center Nijmegen, The Netherlands presented about “Targeted sequencing for Inherited Cancers using the IonTorrent”. Dr. Kornelia Neveling, also from Radboud University Medical Center Nijmegen talked about “Using the Ion Torrent platform to replace Sanger sequencing”. Dr. Christian Gilissen, who is specialized in the analysis of Next Generation Sequencing data and interpretation of single nucleotide variation presented about bioinformatics for NGS.

Many other interesting topics were covered during the seminar and it was followed by hands-on workshop on day 2. We believe it has been a very informative workshop to all the attendance.

The Medical Genetics Society of Malaysia organized the International Medical Genetics Conference 2014 (IMGC 2914) from 3rd to 5th December at Putra World Trade Centre.

The objective of this conference is to explore advances in the medical field to improve cancer care with the latest DNA technologies: targeted treatment, prevention and prognosis for the future generation. This event was participated by 200 delegates and featured 8 esteemed speakers from Malaysia, Netherlands and United Kingdom.

Participants benefited from great knowledge sharing on human cancer genetics by joining the conference and through the networking opportunities with the experts.