General information
SALSA^® digitalMLPA™ Probemix D001 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 in 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 D001 Hereditary Cancer Panel 1 should be confirmed with a different technique or with SALSA^® MLPA^® probemixes when possible. In particular, CNVs detected by only a single probe always require confirmation by another method. For many genes included in 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 probemix in combination with sequence analysis.

This 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 approximately 725 probes is included in D001-C1 Hereditary Cancer Panel 1, this consists of:
- 576 probes detecting copy number alterations involved in hereditary cancer (Table 2 in the product description).
- Five mutation-specific probes, which will only generate probe reads when that particular mutation is present (Table 2 in the product description). For more information see the D001-C1 probemix specific Probe Information File.
- Three wild type specific probes, which detect the wild type sequence of a particular mutation (Table 2 in the product description). For more information see the D001-C1 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.

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