NXtec Carrier Panel 1 (digitalMLPA)

Analysis of genetic variants associated with autosomal recessive and X-linked disorders commonly tested in carrier screening

More detailed product information

NXtec D028 Carrier Panel 1 is a test based on digitalMLPA technology that enables detection of copy number variations (CNVs) and selected single nucleotide variants (SNVs) in genes associated with inherited disorders. The panel provides a fast and reliable overview of genetic variants relevant for carrier screening.

The test targets genes associated with conditions such as spinal muscular atrophy (SMA), Duchenne and Becker muscular dystrophy, cystic fibrosis, thalassemias, and hereditary hearing loss.

Key benefits:

simultaneous detection of CNVs and selected SNVs in a single analysis
digitalMLPA technology
multiplex analysis of multiple genetic regions
compatibility with Illumina sequencers

Actual product information and documents can be found on the MRC Holland website.

For more information, please contact us by e-mail: diagnostika@pentagen.cz