These 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.
The SALSA MLPA Probemix P031-B3 FANCA mix 1 contains 31 MLPA probes with amplification products between 137 and 409 nt. This includes 22 probes for the FANCA
gene. In addition, nine reference probes are included and detect nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com
The SALSA MLPA Probemix P032-B3 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 and detect ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com
These Probemixes contains nine 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 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.mlpa.com