General Information
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.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P406-A2 CMT2 contains 45 MLPA probes with amplification products between 130 and 481 nt. This includes 36 probes for the aforementioned genes. In addition, nine 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 121nt: 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