SALSA MLPA P081 NF1 mix 1 probemixCEimproved

application: Neurofibromatosis
region: NF1 17q11.2
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version: D1
sold since: 2017-08-21

item no. description price
P081-025R SALSA MLPA P081 NF1 mix 1 probemix – 25 rxn € 237
P081-050R SALSA MLPA P081 NF1 mix 1 probemix – 50 rxn € 474
P081-100R SALSA MLPA P081 NF1 mix 1 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Intended use: The SALSA® MLPA® probemixes P081 NF1 mix 1 and P082 NF1 mix 2 are an in vitro diagnostic (IVD) 1 or research use only (RUO) assay for the detection of deletions or duplications in the human NF1 gene in order to confirm a clinical diagnosis of Neurofibromatosis type 1. This assay is for use with human DNA derived 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 P081 NF1 mix 1 and P082 NF1 mix 2 probemixes 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 NF1 gene are point mutations, which will not be detected by MLPA. It is therefore recommended to use these SALSA MLPA probemixes in combination with sequence analysis of the NF1 gene. These probemixes are not intended to be used as standalone assays for clinical decisions. The results of this test must be interpreted by a clinical molecular geneticist or equivalent.

1 Please note that these probemixes are 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: Neurofibromatosis is an autosomal dominant disorder characterised particularly by café-au-lait spots and fibromatous tumours of the skin. Neurofibromatosis type 1 is caused by loss-of-function mutations in the NF1 gene on 17q11.2. Neurofibromatosis type 2 is caused by defects in the NF2 gene on chromosome 22q12.2, for which the P044 NF2 MLPA probemix (RUO) can be used.
Estimated birth incidence of Neurofibromatosis type 1 is 1 in 3000, with about half of the NF1 cases caused by de novo sporadic mutations. De novo sporadic mutations may also be the result of germline mosaicism in apparently unaffected parents.
More information is available on https://www.ncbi.nlm.nih.gov/books/NBK1109/.

Deletions of part of the NF1 gene as well as deletions and duplications of the complete NF1 gene have been described. Relatively common (5-10% of NF1 cases) is a deletion of a 1.4 Mb chromosomal region harbouring multiple genes, including the NF1 gene. The phenotype of this 17q11.2 microdeletion is usually much more severe than most other NF1 cases and may include developmental delay. Next to the 1.4 Mb deletion described above, a 1.2 Mb microdeletion and nonrecurrent atypical microdeletions of different sizes have been reported. The P122 NF1 area MLPA probemix (RUO) can be used to determine the extent of the deletion as it contains many probes for other genes in the frequently deleted 1.4 Mb region.

P081-D1 and P082-C2 probemix content: The P081 and P082 probemixes together contain one probe for each exon, three probes for exon 1, one probe for intron 1, and two probes for the exons 15, 21, 23, 51 and 58 of the NF1 gene. Additionally, these probemixes contain one upstream and one downstream probe and two probes for the OMG gene, located within intron 36 of the NF1 gene.

The P081-D1 probemix contains 46 MLPA probes with amplification products between 130 and 463 nt in length, including 11 reference probes. The P082-C2 probemix contains 44 MLPA probes with amplification products between 130 and 483 nt in length, nine of which are reference probes. The identity of the genes detected by the reference probes is available online (www.mlpa.com).

Each of these probemixes contain nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), three DNA Denaturation Fragments (D-fragments), and one chromosome X and one chromosome Y-specific fragment (Table 1). The Q-fragments are only visible when less than 100 ng sample DNA is used. Low signal of the 88 or 96 nt fragment indicates incomplete DNA denaturation. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol.

related products
SALSA MLPA P044 NF2 probemix
Contains probes for the NF2 gene, involved in Neurofibromatosis type 2.
SALSA MLPA P122 NF1-area probemix
Contains probes for the 17q11.2 region, involved in Neurofibromatosis type 1.
SALSA MLPA P295 SPRED1 probemix
Contains probes for the SPRED1 gene at 15q14, involved in Neurofibromatosis type I-like syndrome.

product history
version D1: The exon 21 and 23 probes have been replaced, and an extra probe has been added for exon 21. Also, one reference probe has been replaced.
version C1: 11 target probes have been added or replaced and 10 references have been added or replaced.
version B2: The 88 and 96 nt control fragments have been replaced (QDX2).
version B1: Three NF1 probes have been replaced, two reference probes have been removed and extra control fragments have been added.

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