The SALSA MLPA
Probemixes P031/P032 FANCA are research use only (RUO)
assays for the detection of deletions or duplications in the FANCA
gene, which is associated with Fanconi Anemia.
Fanconi Anemia (FA) is an autosomal recessive disorder characterised by physical abnormalities, bone marrow failure, and increased risk of malignancy. Mutations in several different genes can result in FA, however defects of the FANCA
gene are the most frequent cause (60-70% of cases). Known defects of the FANCA
gene include point mutations, small deletions/insertions and deletions of one or more complete exons.
gene (43 exons) spans ~79 kb of genomic DNA and is located on chromosome 16q24.3, ~88 Mb from the p-telomere (close to the q-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.
The SALSA MLPA Probemix P031-B4 FANCA mix 1 contains 31 MLPA probes with amplification products between 137 and 409 nucleotides (nt). This includes 22 probes for the FANCA
gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. The SALSA MLPA Probemix P032-B4 FANCA mix 2 contains 32 MLPA probes with amplification products between 140 and 418 nt. This includes 21 probes for the FANCA
gene and one flanking probe in the GAS8
gene. In addition, ten reference probes are included that detect autosomal chromosomal locations. Together, the mixes cover all exons of the FANCA
gene. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com
These probemixes contain 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