CleanPlex® Microphthalmia/Anophthalmia Disorders Panel

The CleanPlex® Microphthalmia/Anophthalmia Disorders Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 57 genes associated with Microphthalmia/Anophthalmia Disorders.

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Product Description

The CleanPlex® Microphthalmia/Anophthalmia Disorders 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 57 genes associated with Microphthalmia/Anophthalmia Disorders. 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:
ABCB6, ALDH1A3, BCOR, BMP4, BMP7, CHD7, COL4A1, COX7B, CRYBA4, CYP1B1, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF6, GJA1, GRIP1, HCCS, HESX1, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VPS13B, VSX2, YAP1, ZIC2

References:
Yahyavi M, et al. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet. 2013 Aug 15;22(16):3250-8.

Asai-Coakwell M, et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 Mar 15;18(6):1110-21.

Gerth-Kahlert C, et al. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013 May;1(1):15-31.

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