The SALSA MLPA
Probemix P207 F9 is a research use only (RUO)
assay for the detection of deletions or duplications in the F7
genes, providing instructions for making 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
, and https://www.ncbi.nlm.nih.gov/books/NBK1404/
, and https://www.ncbi.nlm.nih.gov/books/NBK1495/
The SALSA MLPA Probemix P207-C4 F9 contains 38 MLPA probes with amplification products between 130 and 454 nt. This includes 25 probe(s) for the F7
genes. In addition, 13 reference probes are included and detect different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com
This probemix 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