NXtec D038 Carrier Plus is a digitalMLPA assay that detects copy number variations and SNVs in 25 chromosomal regions.
Contents: 718 probes, including 508 probes for 25 regions (of which 32 probes target the wild-type sequence of a particular SNV and 4 probes target the wild-type sequence at two locations simultaneously), and 10 probes detecting selected SNVs in SMN1, CYP21A2, HBB, DHCR7, HBA, ASPA, and MCOLN1.
Tissue: human genomic DNA.
Application: research on 25 chromosomal regions associated with autosomal recessive or X-linked conditions frequently tested for in carrier screening. For a full list of content, see the General information and the PIF for more details.
For research use only (RUO). Not for use in diagnostics.
Note that this assay must be used in combination with Coffalyser digitalMLPA v2.6.2 or newer.
NXtec D038-A1 Carrier Plus is a research use only (RUO) assay for the detection of deletions, duplications, large gene conversions and the presence/absence of several selected SNVs in 25 chromosomal regions mentioned below, 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 D038-A1 Carrier Plus are small (point) mutations, most of which will not be detected by using D038-A1 Carrier Plus. 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 D038 Carrier Plus 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 D038-A1 Carrier Plus 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 SD104 is a (pooled) female DNA sample with a normal copy number for all D038 Carrier Plus 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 SD104 samples in each experiment. See section "Data analysis and reference samples" of the product description for further details.
SALSA Sample DNA SD104 is an integral part of NXtec D038 Carrier Plus, and cannot be ordered separately.
Note: SALSA Sample DNA SD104 is an integral part of NXtec D038 Carrier Plus, 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.
Positive samples for this product are not yet available online. Contact us if you need more information.