SALSA MLPA Probemix P455 LZTR1 detects copy number variations in the LZTR1 gene.
Contents: 45 MLPA probes, including 20 probes for LZTR1.
Tissue: human genomic DNA.
Application: research on schwannomatosis.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P455 LZTR1 is a research use only (RUO) assay for the detection of deletions or duplications in the LZTR1 gene, which is associated with schwannomatosis.
Schwannomatosis (MIM 162091), the third major form of neurofibromatosis, is a late-onset tumour predisposition disorder that is clinically and genetically distinct from neurofibromatosis types 1 (MIM 162200) and 2 (MIM 101000). In approximately 50% of the schwannomatosis cases, germline mutations in SMARCB1 have been identified (Smith et al. 2012). Genetic analysis of the schwannomas showed that mutation of SMARCB1 is often followed by loss of heterozygosity at the 22q region and subsequent mutation of the NF2 gene. Together, these three events result in biallelic loss of the SMARCB1 and NF2 tumour suppressor genes in the schwannomas. In 22q-related schwannomatosis cases without constitutional SMARCB1 mutations, Piotrowski identified germline mutations in LZTR1 (Piotrowski et al. 2014). Mutations in LZTR1 may account for up to 80% of the schwannomatosis cases lacking mutations in SMARCB1.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK487394/.
SALSA MLPA Probemix P455 LZTR1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.
We have no information about specific commercially available positive samples that can be used with this product.