SALSA MLPA Probemix P432 MYH9 detects copy number variations in the MYH9 gene.
Contents: 53 MLPA probes, including 43 probes for MYH9 of which 1 detects the wild-type sequence of the c.4270G>C/A/T mutation (p.D1424H/N/Y), and probes for MYH9 c.287C>T (p.S96L) and c.2104C>T (p.R702C).
Tissue: human genomic DNA.
Application: research on MYH9-related disorder (MYH9RD).
For research use only (RUO). Not for use in diagnostics.
SALSA MLPA Probemix P432 MYH9 is a research use only (RUO) assay for the detection of deletions or duplications in the MYH9 gene, which is associated with MYH9-related disorder (MYH9RD). This probemix can also be used to detect the presence of the c.287C>T (p.S96L) and c.2104C>T (p.R702C) point mutations as well as the wild type sequence of the c.4270G>C/A/T (p.D1424H/N/Y) mutation.
The MYH9 gene is located on chromosome 22q12.3 and encodes the non-muscle myosin (heavy chain, type II-A). MYH9-related disorder (MYH9RD) is an autosomal dominant platelet disorder characterized by macrothrombocytopenia and thrombocytopenia. The complex phenotype of MYH9RD may include bleeding problems, hearing loss, renal disease, and cataracts. Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9RD.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK2689/.
SALSA MLPA Probemix P432 MYH9 is for research use only (RUO) in all territories.
SALSA Binning DNA SD035 is an artificial DNA sample with a signal for all probes in the P432 MYH9 probemix. Inclusion of a reaction with SD035 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.
A vial of SALSA Binning DNA SD035 is included with every order of the P432 MYH9 probemix, but it is possible to order additional vials separately.
For more information, see the product description.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
A vial is included with every order of this probemix, but additional vials can also be purchased separately.
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.