Product Description
The CleanPlex® Hereditary Sensory and Autonomic Neuropathy Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 17 genes associated with Hereditary Sensory and Autonomic Neuropathy. The panel targets all the exonic regions of those genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The pre-designed panel is optimized in silico to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
This product is made to order. Once we receive your order, we will synthesize the panel and the kit will contain CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RAB7A, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1
References:
Edvardson S, et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol. 2012 Apr;71(4):569-72.
Leipold E, et al. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov;45(11):1399-404.
Mroczek M, et al. Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies. Acta Neurobiol Exp (Wars). 2015;75(2):126-43.
Woods CG, et al. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur J Hum Genet. 2015 May;23(5):561-3.