The CleanPlex® Porphyria Disorders is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 12 genes associated with Porphyria.
CleanPlex® Porphyria Disorders
The CleanPlex® Porphyria Disorders 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 12 genes associated with Porphyria. 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.
ALAD, ALAS2, C15orf41, CPOX, FECH, HFE, HMBS, LAD, PPOX, SLC19A2, UROD, UROS
Gouya L. et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14.
Mendez M. et al. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet. 1998 Nov;63(5):1363-75.
Whatley S.D. et al. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. The Journal of Investigative Dermatology. J Invest Dermatol. 2007 Dec;127(12):2790-4.
|Dimensions||10 x 7 x 5 cm|
|Pack Size (Reactions)|