SALSA MLPA Probemix P406 CMT2 detects copy number variations in the RAB7A, GARS, HSPB1, HSPB8 and SPTLC1 genes.
Contents: 45 MLPA probes, including 6 probes for RAB7A, 17 probes for GARS, 3 probes for HSPB1, 2 probes for HSPB8, and 8 probes for SPTLC1.
Tissue: human genomic DNA.
Application: research on Charcot-Marie-Tooth hereditary axonal neuropathy type 2 (CMT2).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P406 CMT2 is a research use only (RUO) assay for the detection of deletions or duplications in the RAB7A, GARS, HSPB1, HSPB8 and SPTLC1 genes, which are associated with Charcot-Marie-Tooth hereditary axonal neuropathy type 2.
Charcot-Marie-Tooth hereditary axonal neuropathy type 2 (CMT2) is characterised by distal muscle weakness and atrophy, mild sensory loss and normal or near normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. There are several subtypes of CMT2, which are clinically alike and are only distinguished from each other by molecular genetic findings.
SALSA MLPA Probemix P406 CMT2 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered 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.