NXtec D028 Carrier Panel 1 is a digitalMLPA assay that detects copy number variations and selected SNVs in SMN1, CYP21A2, CFTR, the HBB region, the HBA region, the DFNB1 region, DMD, CLN3, and CTNS.
Contents: 422 probes, including 204 probes for 9 regions (of which 24 probes target the wild-type sequence of a particular SNV and 4 probes target the wild-type sequence at two locations simultaneously), and 6 probes detecting SNVs in SMN1, CYP21A2, HBB, and HBA.
Tissue: human genomic DNA.
Application: research on spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), alpha- and beta-thalassemia, cystic fibrosis (CF), congenital adrenal hyperplasia (CAH), cystinosis, hearing loss, and juvenile neuronal ceroid lipofuscinosis.
For research use only (RUO). Not for use in diagnostics.
NXtec D028-A1 Carrier Panel 1 is a research use only (RUO) assay for the detection of deletions, duplications, large gene conversions and the presence/absence of several selected mutations in nine chromosomal regions mentioned in Table 2 of the product description, which are associated with autosomal recessive or X-linked conditions that are frequently tested for in carrier screening.
A frequent cause of genetic defects in the regions included in D028-A1 Carrier Panel 1 are small (point) mutations, most of which will not be detected by using D028-A1 Carrier Panel 1. It is therefore strongly recommended to use this digitalMLPA probemix in combination with sequence analysis.
Use the calculator below to get an indication of the number of samples that can be included in a sequencing run. Click here if you are having issues loading or using the calculator, or if you would like more information about the calculation.
NXtec D028 Carrier Panel 1 is for research use only (RUO) in all territories.
The selection of suitable reference DNA samples with a normal copy number for all targets included in D028-A1 Carrier Panel 1 can be complicated, as a significant portion of the global population is found to be a carrier of at least one variant. SALSA Sample DNA SD100 is a (pooled) female DNA sample with a normal copy number for all D028 Carrier Panel 1 targets, as shown in the PIF under the column "Normal copy number". To facilitate correct data analysis and interpretation of copy numbers, it is strongly recommended to include at least three SD100 samples in each experiment. See section "Data analysis and reference samples" of the product description for further details.
SALSA Sample DNA SD100 is an integral part of NXtec D028 Carrier Panel 1, and cannot be ordered separately.
Note: SALSA Sample DNA SD100 is an integral part of NXtec D028 Carrier Panel 1, and cannot be ordered separately (more information).
A general NXtec Reagent Kit is required for digitalMLPA NXtec experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
See this support article for commercially available positive samples that can be used with this product.