Newborn screening of inborn error of metabolism is a public health program provided by most of the countries around the world aimed at screening newborns for a list of serious genetic and metabolic disorders. Early diagnosis of those conditions can help prevent their further development which untreated often results in brain damage, organ damage, and even death. A routine neonatal screening procedure requires that a medical professional takes a few drops of blood from the baby’s heel, applies them onto a filter paper and sends such prepared Dried Blood Spot (DBS) samples to a laboratory for a number of analytical tests.
Despite the attractive benefits of DBS micro sampling method, conventional DBS sample analysis relies on a ‘punch-and-elute’ approach, which typically requires 1 – 2 hours laborious sample preparation before MS analysis. Carry-over issue from repeated card punching could affect analysis accuracy and precision. Loss of sample traceability is unavoidable once the discs are punched out from the DBS card, posing a high risk of sample mix-up.
To tackle the aforementioned issues, CAMAG DBS-MS 500 brings in a new approach – direct sample extraction and seamless integration to mass spectrometer.
Using CAMAG’s unique extraction head design and other robotic tools, the mass spectrometry results are just a click away after sample loading. CAMAG DBS-MS 500 online sample extraction system offers fast, efficient and highly reliable sample handling, eliminating the need for any human inference in-between samples.
CAMAG’s unique design of the extraction head consist of a sealing ring pressing tightly on the sample card, which is effective in sealing the extraction solvents into a confined volume. Extraction solvent is entering from the bottom of the card in order to minimize unwanted matrix to be extracted (See FIG.1). With this design, extraction solvent required is only one tenth of what is required for conventional batch extraction and therefore more concentrated samples can be obtained, which would further enhance analysis sensitivity. User can also define different extraction profile with varying solvent mix, flow rate and solvent volume, depending on the analytes of interest.
The efficacy of CAMAG DBS-MS 500 for NBS has been investigated by comparing the MS profiles of a new born with confirmed diagnosis of Phenylketonuria (PKU) obtained by using the CAMAG online extraction method and the conventional method (punch and elute) [Fig.2a]. The two methods are comparable and correlated very well with a R2 of 0.994 [Fig.2b]. Intra and inter assay CV for the online extraction method were both below 10% [Fig. 2c]. More results for other diseases (Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Propionic Academia (PA) and Maple syrup urine disease (MSUD) can be found in the reference article.
Fig.2a Comparison of the routine NBS method and CAMAG DBS-MS 500 online extraction method for a newborn with Phenylketonuria (PKU) (Left: By conventional method; Right: By CAMAG DBS-MS 500)
Fig.2b Correlation curve
Fig.2c Intra and Inter Assay Precision and Accuracy for the two methods
Media Report 2014
CAMAG’s DBS-MS 500 dried blood spot online extraction system simplifies and enhances bioanalysis for newborn screening, enabling high quality information to be collected in the most efficient manner.