The CleanPlex® Hyperphenylalaninemia Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 7 genes associated with Hyperphenylalaninemia.
CleanPlex® Hyperphenylalaninemia Panel
The CleanPlex® Hyperphenylalaninemia 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 7 genes associated with Hyperphenylalaninemia. 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.
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
Anikster Y, et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Am J Hum Genet. 2017 Feb 2;100(2):257-266.
Camp KM, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun;112(2):87-122.
Leuzzi V, et al. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet. 2010 Mar;77(3):249-57.
|Dimensions||10 x 7 x 5 cm|
|Pack Size (Reactions)|