General information
This SALSA digitalMLPA probemix D001-B1 Hereditary Cancer Panel 1 is a research use only (RUO) assay for the detection of exon deletions or duplications in the genes mentioned in Table 2 of the product description, which are associated with hereditary predisposition for formation of breast, ovarian, colorectal, gastric, prostate, pancreatic or endometrial tumours, or for melanoma.

This assay is intended for use with human genomic DNA isolated from peripheral whole blood and is not intended to be used with genomic DNA extracted from formalin-fixed paraffin embedded or fresh tumour materials. Copy number variations (CNVs) detected with the D001 Hereditary Cancer Panel 1 probemix should be confirmed with a different technique or with conventional MLPA probemixes when possible. In particular, CNVs detected by only a single probe always require confirmation by another method. For many genes included in this D001 Hereditary Cancer Panel 1, the most frequent germline defects are point mutations, the majority of which will not be detected by this probemix. It is therefore strongly recommended to use this D001 digitalMLPA probemix in combination with sequence analysis.

Probemix content
A total number of approximately 690 probes is included in this D001 Probemix, this consists of:
- 558 probes detecting copy number alterations involved in hereditary cancer (Table 2 of the product description).
- Five mutation-specific probe(s), which will only generate a probe reads when that particular mutation is present (Table 2 of the product description).
- Three wild type specific probes, which detect the wild type sequence of a particular mutation.
For more information see the D001-B1 probemix specific Probe Information File.
- More than 120 control probes and fragments: these include 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
Read more about SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 on this application highlight page or in this flyer.