General Information: The SALSA MLPA Probemix P307 SEPT9 is a research use only (RUO) assay for the detection of deletions or duplications in the SEPT9 gene, which is associated with Hereditary Neuralgic Amyopathy (HNA).

HNA is an autosomal dominant disorder that affects the brachial plexus and may first appear in childhood. It is characterized by episodes of sudden onset pain in arms and shoulders as well as weakness, followed by total or partial paralysis of the affected area. These episodes are often triggered by an infection, an immunization, childbirth, or overworking the arms and shoulders.

HNA has been associated with mutations in the SEPT9 gene encoding Septin 9, a member of the Septin family. Septins are a group of evolutionarily conserved genes encoding proteins with various functions, including membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and oncogenesis. Septin 9 is ubiquitously expressed and it is believed that it is involved in cytokinesis and tumorigenesis.

Probemix content: The SALSA MLPA Probemix P307-B3 SEPT9 contains 29 MLPA probes with amplification products between 148 and 409 nt. This includes 19 probes for the SEPT9 gene. Several of these probes target exons that are only present in certain transcript variants. In addition, ten reference probes are included and detect ten 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 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.mlpa.com.