The new panel detects copy number variants and selected genetic variants, including those in complex genomic regions that can be difficult to assess with routine sequencing.

MRC Holland has launched NXtec D038 Carrier Plus, a new digitalMLPA panel designed to support carrier status determination for 26 inherited disorders. The company says the panel includes conditions that can be challenging to fully assess using routine sequencing approaches alone.

Many inherited disorders are associated with copy number variants or involve complex genomic regions characterized by gene homology, pseudogenes, and other challenging features. digitalMLPA combines the specificity of MLPA with the throughput of next-generation sequencing (NGS), allowing simultaneous detection of copy number variants and selected variants in a single assay.

Two Levels of Carrier Coverage

The NXtec Carrier portfolio now has two tiers. NXtec D028 Carrier Panel 1 provides focused coverage of genes associated with key inherited disorders, including:

  • Spinal muscular atrophy
  • Duchenne and Becker muscular dystrophies
  • Alpha- and beta-thalassemia
  • Cystic fibrosis
  • Congenital adrenal hyperplasia
  • Hearing loss
  • Juvenile neuronal ceroid lipofuscinosis
  • Cystinosis

D038 Carrier Plus expands coverage to 26 autosomal recessive and X-linked disorders across neuromuscular, neurological, hematological, metabolic, lysosomal storage, endocrine, hearing loss, DNA repair, and other disease categories. The panel includes all D028 targets and adds conditions such as fragile X syndrome, Gaucher disease, Tay-Sachs disease, Bloom syndrome, galactosemia, phenylketonuria, and hemophilia A, among others commonly included in expanded carrier screening programs.

Together, the two panels let laboratories choose between focused and expanded disease coverage while integrating the assay into existing NGS operations, according to the company.

Key Features

MRC Holland lists the following features for the portfolio:

  • Detection of relevant copy number variants, even in highly homologous regions
  • Data analysis with free software that requires no bioinformatics expertise
  • A cost of €35 to €40 per reaction for 10 to 26 genetic conditions
  • Compatibility with other NGS libraries

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