General information
The SALSA MLPA Probemix P057 FANCD2-PALB2 is a research use only (RUO) assay for the detection of deletions or duplications in the FANCD2 and PALB2 genes, which are associated with Fanconi Anemia (FA).

FA is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as with dermal pigmentary changes. Several FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. Defects in the FANCD2 gene are one of the possible causes of FA. The FANCD2 gene (44 exons) spans ~73 kb of genomic DNA and is located on chromosome 3p25.3, about 10 Mb from the p-telomere.

FA has also been linked to defects in the PALB2 gene. It was shown that mutations in PALB2 result in an increased susceptibility to breast cancer, that biallelic mutations cause Fanconi anemia subtype FA-N, and predispose to childhood cancers. PALB2 mutations have also been detected in approximately 3% of familial pancreatic cancer families, especially those families in which also breast cancer cases occur (Slater et al. 2010). The PALB2 gene spans ~38 kb of genomic DNA and is located on chromosome 16p12.1, about 24 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1401/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P057-B3 FANCD2-PALB2 contains 39 MLPA probes with amplification products between 130 and 431 nucleotides (nt). This includes 15 probes for the FANCD2 gene, targeting 14 out of 44 exons, and 13 probes for the PALB2 gene, one probe for each exon. In addition, 11 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.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.mrcholland.com.