AmplideX Nanopore Carrier Plus carrier screening test

AmplideX Nanopore Carrier Plus Kit from Asuragen interrogates 11 autosomal recessive or X-linked genes associated with inherited disorders such as cystic fibrosis, spinal muscular atrophy, Fragile X syndrome, alpha thalassemia, and beta thalassemia. The detected genes: CFTR, SMN1, SMN2, FMR1, HBA1, HBA2, HBB, CYP21A2, TNXB, GBA and F8 intron inversions.

The kit is based on long-read sequencing and provides more reliable results than short-read sequencing. It also gives additional insights (e.g. AGG information) compared with traditional methods.

The workflow includes DNA extraction from blood, PCR enrichment, long-read sequencing, and automated data analysis and genotyping. Result interpretation does not require a bioinformatician, as the AmplideX One Reporter software included with the kit provides ready-to-read results.

The 11 genes are divided into four mixes (Mix A, B, C and D). This modular design allows laboratories to select the combination of testing that best fits their needs and size.

Mix A: CFTR, SMN1, SMN2
Mix B: FMR1
Mix C: HBA1, HBA2, HBB
Mix D: CYP21A2, TNXB, GBA, F8 intron inversions

For research use only.