General information
The SALSA digitalMLPA Probemix D006-A1 Multiple Myeloma is a research use only (RUO) assay for the detection of deletions, gains or amplifications of genes and chromosomal regions mentioned in Table 2 in the product description that are recurrently altered in multiple myeloma, such as 1p, 1q, 13q and 17p, as well as for the detection of BRAF p.V600E point mutation.

Multiple myeloma (MM) is a clonal B-cell disorder characterised by malignant proliferation of monoclonal plasma cells. MM cases present with a common histological and morphological diagnosis, however simultaneously displaying enormous genetic and molecular complexity as well as marked variations in clinical characteristics and patient survival. Recent progress in molecular cytogenetics has improved the understanding of pathogenesis of MM and also provided reasoning for molecular sub-classification of MM. Genetic alterations in MM are well characterised and include gross chromosomal rearrangements such as fusion genes, hyper-/hypodiploidy and also focal deletions. The D006 Multiple Myeloma digitalMLPA probemix is designed to detect the majority of the primary and secondary CNAs in MM.

This SALSA digitalMLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
A total number of ~630 probes is included in this D006-A1 Multiple Myeloma probemix consisting of:
- 189 target probes detecting copy number alterations involved in multiple myeloma (Table 2 in the product description).
- One mutation-specific probe which will only generate probe reads when BRAF p.V600E point mutation is present (Table 2 in the product description).
- 278 karyotyping probes, covering most chromosome arms at the centromeres, middle of the chromosome arms and telomere regions. No probes are present for the short p-arm of the five acrocentric chromosomes (13, 14, 15, 21 and 22). 81 karyotyping probes are used as reference probes. See Table 3 in the product description for all chromosomal regions and genes included.
- More than 160 control probes and fragments are included: probes to aid in normalisation in case of copy number changes in tumour samples, probes for sample identification and probes for detection of errors or deviations when performing digitalMLPA assays, impurities in and fragmentation of the DNA samples, ligase and polymerase activity and extent of hybridisation.

More information on the location, mutation details and warnings of the probes present in this probemix can be found in the Probe Information File (PIF) available at www.mrcholland.com.

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