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SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1

SALSA® digitalMLPA™ Probemix D001-D1 Hereditary Cancer Panel 1 detects copy number variations in genes associated with hereditary predisposition to breast, ovarian, colorectal, gastric, prostate, pancreatic or endometrial cancer, and melanoma.

Specifications

Contents: 723 probes, including 575 probes for 28 hereditary cancer-related genes (of which 3 probes detect the wild type allele of mutations in PMS2, POLE and BRCA2), and 7 mutation-specific probes for MSH2, MITF, PMS2 and CHEK2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: research on predisposition to 8 common cancer types.

For research use only (RUO). Not for use in diagnostics.

General information

SALSA® digitalMLPA™ Probemix D001-D1 Hereditary Cancer Panel 1 is a research use only (RUO) assay for the detection of deletions or duplications and the presence/absence of several mutations (including inversions) 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.

The image below shows all target genes and all targeted variants for this probemix. Click the image to enlarge.

Target genes and regions in D001 Hereditary Cancer Panel 1 (click to enlarge)

Sample number calculator

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.

Regulatory status

SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
D001-025R
SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 – 25 rxn
€ 594.00
D001-050R
SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 – 50 rxn
€ 1188.00
D001-100R
SALSA digitalMLPA Probemix D001 Hereditary Cancer Panel 1 – 100 rxn
€ 2376.00

Required reagents

A general SALSA digitalMLPA Reagent Kit is required for digitalMLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
DRK01-IL
SALSA digitalMLPA Reagent Kit – 100 rxn (6 vials)
€ 341.00
DRK05-IL
SALSA digitalMLPA Reagent Kit – 500 rxn (5×6 vials)
€ 1571.00
DRK20-IL
SALSA digitalMLPA Reagent Kit – 2000 rxn (5×6 vials)
€ 6037.00
BP01-IL
SALSA digitalMLPA Barcode Plate 1 (barcode solutions 1–96) – 768 rxn
€ 1695.00
BP02-IL
SALSA digitalMLPA Barcode Plate 2 (barcode solutions 97–192) – 768 rxn
€ 1695.00

Price details & ordering

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.

Positive samples

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 have been tested with this product.

Publications

Selected publications using D001 Hereditary Cancer Panel 1

  • Agiannitopoulos K et al. (2023). Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing. Cancer Genomics Proteomics. 20:448-55.
  • Chan SH et al. (2017). Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. Sci Rep. 7:10660.
  • Chan SH et al. (2018). Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours. NPJ Genom Med. 3:30.
  • Rhiem K et al. (2023). Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer. Breast Care (Basel). 18:106-12.

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