General information
The SALSA MLPA Probemix P207 F9 is a research use only (RUO) assay for the detection of deletions or duplications in the F7, F8 and F9 genes, encoding coagulation factors factor VII, factor VIII and factor IX, respectively.

Coagulation factors play an important role in bleeding control and vessel repair. Deficiency in any of these genes may results in a bleeding disorders with different clinical manifestation: F7 is involved in factor VII deficiency, F8 in hemophilia A, and F9 in hemophilia B. Both hemophilia A and B are inherited in an X-linked manner, while factor VII deficiency is inherited in an autosomal recessive fashion.

More information is available at https://ghr.nlm.nih.gov/gene/F7, https://www.ncbi.nlm.nih.gov/books/NBK1404/ and https://www.ncbi.nlm.nih.gov/books/NBK1495/.


Probemix content
The SALSA MLPA Probemix P207-D1 F9 contains 38 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 11 probes for the F7 gene (one for each exon and two for exons 1 and 8), seven probes for the F8 gene and ten probes for the F9 gene (one for each exon and two for exons 1 and 8). In addition, 10 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.