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SALSA MLPA Probemix P113 FANCB detects copy number variations in the FANCB gene.
Contents: 25 MLPA probes, including 16 probes for the FANCB region (covering all FANBC exons).
Tissue: human genomic DNA.
Application: research on Fanconi anemia (FA).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P113 FANCB is a research use only (RUO) assay for the detection of deletions or duplications in the FANCB gene, which is associated with Fanconi anemia.
Fanconi anemia is a rare genetically heterogeneous recessive disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer due to cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. FANCB is the only gene known to cause X-linked Fanconi Anemia. Patients harboring the X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus.
The FANCB gene (10 exons), spans ~29.7 kb of genomic DNA and is located on chromosome Xp22.2, ~14.8 Mb from the p telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1401/.
SALSA MLPA Probemix P113 FANCB 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.