General information: 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/.
Probemix content: The SALSA MLPA Probemix P113-B1 FANCB contains 25 MLPA probes with amplification products between 142 and 346 nucleotides (nt). This includes one probe for each exon of the
FANCB gene, with one additional probe for exon 3, 8 and 10. Furthermore, two probes located upstream of exon 1 and one probe downstream of exon 10 are included. In addition, nine reference probes are included that detect locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.com).
This probemix contains ten quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and two chromosome Y-specific fragments. 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.