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SALSA MLPA Probemix P017 MEN1

Multiple endocrine neoplasia type 1 (MEN1)

Region: MEN1 11q13.1

MLPA | CE IL
Intended use: The SALSA MLPA probemix P017 MEN1 is an in vitro diagnostic (IVD)1 or a research use only (RUO) assay for the detection of deletions or duplications in the MEN1 gene in order to confirm a potential cause and clinical diagnosis of multiple endocrine neoplasia type 1 (MEN1). This product can also be used for molecular genetic testing of at-risk family members.

This assay is for use with human DNA extracted from peripheral blood and not for use with DNA extracted from formalin-fixed paraffin embedded or fresh tumour materials. Deletions or duplications detected with the P017 MEN1 probemix should be verified by another technique. In particular, deletions or duplications detected by only a single probe always require validation by another method. Most defects in the aforementioned gene are point mutations, none of which will be detected by MLPA. It is therefore recommended to use this SALSA MLPA probemix in combination with sequence analysis of this gene. This assay is not intended to be used as a standalone assay for clinical decisions. The results of this test must be interpreted by a clinical molecular geneticist or equivalent.

1Please note that this probemix is for In Vitro Diagnostic use (IVD) in the countries specified at the end of this product description. In all other countries, the product is for Research Use Only (RUO).

Clinical background: Multiple endocrine neoplasia (MEN) is an autosomal dominant cancer predisposition syndrome characterized by tumours found in two or more endocrine glands. MEN type 1 (MEN1) is primarily characterized by the occurrence of primary hyperparathyroidism (PHPT), which occurs in 95-100% of patients; pancreatic neuroendocrine tumours, which occur in 40-75% of patients; and pituitary adenoma, which is found in 30-50% of patients. Additionally, adrenal tumours, duodenal, thymic and lung neuroendocrine tumours, lipomas, facial angiofibromas, and colagenomas can be found. Most tumours are non-metastasizing, but many can cause striking and serious clinical effects due to increased secretion of hormones. It is estimated that in the general population 1 to 10 in 100.000 individuals develop MEN1 during their lifetime. Nine out of ten patients diagnosed with MEN1 have the familial form, and the penetrance is >95% by age 40 for confirmed pathogenic mutations. The mean age of death of MEN1 patients is between 50 and 55 years of age.

The single gene associated with MEN1 syndrome is MEN1. Heterozygous MEN1 pathogenic variants are found in ~90% of familial MEN1 syndrome patients and in ~65% of sporadic cases. Loss of heterozygosity (LOH) is frequently observed in MEN1 tumours suggesting that MEN1 acts as a tumour suppressor gene, as postulated by the Knudson 2-hit hypothesis. Besides point mutations, several deletions involving one or more complete exons in the MEN1 gene have been described (Carroll 2013, Concolino et al. 2016, Lemos and Thakker 2008, Thakker 2014).

Please note that this probemix is not suited to detect deletions or duplications in DNA extracted from fresh tumour tissue or from formalin-fixed paraffin embedded (FFPE) tumour materials. Probemix P244 (only version D1) can be used in a research setting to detect CNVs in the MEN1 region in DNA from tumour material.

More information can be found on www.ncbi.nlm.nih.gov/books/NBK1538/.

Probemix content: The SALSA MLPA probemix P017-D1 MEN1 contains 25 probes with amplification products ranging from 142 to 373 nt (Table 1 of the product description). It contains 15 target probes: one probe for each exon of the MEN1 gene and two probes for exons 1 and 9, one probe targeting a sequence just upstream of exon 1, and two probes for sequences closely flanking the MEN1 gene centromeric and telomeric. In addition, ten reference probes are included in this probemix. The identity of the genes detected by the reference probes is available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P017-025R
SALSA MLPA Probemix P017 MEN1 – 25 rxn
€ 243.00
P017-050R
SALSA MLPA Probemix P017 MEN1 – 50 rxn
€ 486.00
P017-100R
SALSA MLPA Probemix P017 MEN1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P169 Hirschsprung-1

Contains probes for the RET gene. Activating mutations in RET are associated with MEN type 2B.

SALSA MLPA Probemix P177 CASR

Contains probes for the CASR gene, associated with familial hypocalciuric hypercalcaemia, a disease with certain similar symptoms as PHPT.

SALSA MLPA Probemix P244 AIP-MEN1-CDKN1B

Contains eleven MEN1 probes, including nine that are also present in P017, and is supplemented with probes for the AIP gene and several other genes in the 11q13 region, as well as CDKN1B.

SALSA MLPA Probemix P466 CDC73

Contains probes for the CDC73 gene that is associated with hyperparathyroidism-jaw tumour syndrome, a disease with certain similar symptoms as PHPT.

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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA).

IL

IVD-registered in Israel.