Masdiag introduces a new LC-MS/MS method for quantifying LPC-VLCFA derivatives from dried blood spot, enabling faster and more accessible X-ALD and peroxisomal disorder screening.
Masdiag is proud to announce the introduction of a new diagnostic test for X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. The analysis of lysophosphatidylcholine (LPC) derivatives of very long-chain fatty acids (26:0-LPC, 24:0-LPC, and 22:0-LPC) can now be performed from a simple dried blood spot (DBS) sample.
Until now, VLCFA testing in Poland was only available from serum, with results often taking months. With Masdiag's new DBS-based method, access to reliable X-ALD diagnostics is faster, easier, and more accessible than ever before.
X-linked adrenoleukodystrophy affects approximately 1 in 17,000 newborns. Early detection is critical because haematopoietic stem cell transplant (HSCT) can halt neurodegeneration — but only if performed before clinical onset of cerebral disease.
The method uses LC-MS/MS to quantify three key LPC-VLCFA species and their diagnostic ratios from a standard dried blood spot card. The assay is validated for both newborn screening and clinical diagnostic contexts, with demonstrated sensitivity and specificity against established reference methods.
At Masdiag, we are committed to expanding access to innovative diagnostics for rare diseases — because every patient deserves timely answers.
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