CleanPlex® Hyperammonemia and Urea Cycle Disorder Panel

The CleanPlex® Hyperammonemia and Urea Cycle Disorder Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 52 genes associated with Hyperammonemia and Urea Cycle Disorder.

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Product Description

The CleanPlex® Hyperammonemia and Urea Cycle Disorder 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 52 genes associated with Hyperammonemia and Urea Cycle Disorder. 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:
ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, BTD, CA5A, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, PC, PCCA, PCCB, PDHA1, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70, UMPS

References:
Shoji Y, et al. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. Hum Mutat. 2002 Nov;20(5):375-81.

Häberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys. 2013 Aug 15;536(2):101-8.

Additional Information

Weight40 g
Dimensions10 x 7 x 5 cm
Pack Size (Reactions)

384

For early access to our upcoming Respiratory Research Panel combining Influenza A/B and SARS-CoV-2 testing, please visit HERE. Dismiss