A customized and refined assay to search of confirm exonic or multiexonic deletions/duplications a gene.

When there’s no other solution

MLPA commercial kits are not available for all genes. Furthermore, large deletions or duplications detected by Whole Exome Sequencing may require confirmation by an orthogonal method. qPCR (quantitative PCR) is the ideal solution for large deletion/duplication testing of single genes, when MLPA is unavailable.

Intelligent amplicon design

With a clever approach to amplicon design, our large deletion/duplication testing becomes a reality even for very long genes with a high number of exons.

Results you can trust

Our qPCR comes from trusted partners in the clinical area, so you can always rely on the results we bring you.

Technical specifications


Quantitative Polymerase Chain Reaction (qPCR) for detection/confirmation of large deletions or duplications involving one or more exons. Entire gene coverage, when possible.

Sample specifications

DNA (at least 1 mg), whole-blood in EDTA (purple cap tubes), dried blood spots (on Breda Genetics filter cards), Breda Genetics buccal swabs.


8-12 weeks.


Per Professionisti e Laboratori: registrati qui per inserire il tuo 1-minute online order. Per Pazienti: inviare una richiesta a info@bredagenetics.com


Due to the extreme length of the gene or due to particular sequence conformation in certain DNA regions (e.g., extremely high GC-rich content or very high rates of sequence homology), the number of producible amplicons may be limited reducing the number of screenable exons. Alternatives to scan the genomic region of interest by algorithmic CNV analysis based on NGS may be offered in this case.


At partner clinical labs.

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