MRC Holland announces the launch of their digitalMLPA assay, NXtec™ D008 DMD. Designed for reliable detection of CNVs linked to Duchenne and Becker muscular dystrophies (DMD/BMD), this assay combines MLPA’s gold standard confidence with the scalability of an NGS-based workflow.
Deletions and duplications of complete exons in the DMD gene account for most DMD/BMD cases. These CNVs can be difficult to detect with standard sequencing approaches, which are primarily optimized for identifying single nucleotide variants and small insertions/deletions. MLPA remains the gold standard method for CNV detection thanks to its outstanding sensitivity and specificity. However, complete analysis of the DMD gene requires two separate reactions using the IVDR-certified MLPA probemixes P034 DMD Mix 1 and P035 DMD Mix 2 to ensure full coverage.
NXtec D008 DMD is an NGS-based solution that addresses these challenges by delivering comprehensive, high-resolution CNV analysis in a single reaction. The assay includes 158 probes covering all 79 exons of the DMD gene with two probes per exon, ensuring highly reliable detection from single-exon changes to whole-gene events. In addition, 50 supplementary probes targeting the X chromosome enable the detection of larger CNVs and chromosomal abnormalities, such as X-chromosome aneuploidies including Turner syndrome (45,X).
“NXtec D008 DMD brings the proven reliability of MLPA into a modern NGS workflow, providing laboratories with unmatched confidence in DMD CNV detection while increasing throughput and efficiency,” stated Santiago Castanedo Fontanillas, Product Developer in Cytogenetics at MRC Holland.
NXtec D008 DMD is the latest addition to MRC Holland’s growing digitalMLPA portfolio, which already offers assays related to hereditary cancer testing, oncogenetics applications, carrier status analysis, and genome-wide gross copy number characterization.
Key features
- Gold-standard CNV detection – MLPA-level certainty for DMD analysis
- Comprehensive coverage – all 79 exons of DMD targeted with two probes each plus 50 additional probes for larger X-chromosome CNVs and aneuploidies
- Minimal input requirements – as little as 20 ng of sample DNA
- Versatile: robust performance on DNA from different sample types*
- Easy integration into existing NGS workflows.
- Competitively priced – reagent costs < €30 per sample** (comparable to two separate conventional MLPA reactions)
- Quick turnaround – from sample to sequencer in under 24 hours
- Simple data analysis – free, user-friendly software with no bioinformatics expertise required
* Tested on peripheral blood samples with and without CNVs in DMD, and on amniotic fluid (23-30 weeks) and CVS samples (12-19 weeks) without CNVs in DMD.
** Costs based on list prices and do not include sequencing reagents. Prices may differ when ordering through our sales partners.
About MRC Holland
MRC Holland is the inventor and manufacturer of the MLPA technology, the gold standard for detecting copy number variations and methylation changes in hereditary disorders and tumours. The company also provides the SALSA™ Melt Assay, used worldwide in neonatal SMA screening programs. Its latest innovation, digitalMLPA™, extends the proven performance of MLPA into NGS-based workflows, offering highly accurate and large-scale CNV detection.
For more information, please contact info@mrcholland.com
For the regulatory status of our products, please visit our website at www.mrcholland.com