CleanPlex® Joubert and Meckel-Gruber Syndromes Panel

The CleanPlex® Joubert and Meckel-Gruber Syndromes Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 33 genes associated with Joubert and Meckel-Gruber Syndromes.

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Product Description

The CleanPlex® Joubert and Meckel-Gruber Syndromes 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 33 genes associated with Joubert and Meckel-Gruber Syndromes. 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:
AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, IFT172, INPP5E, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

References:
Hartill V, et al. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017 Nov 20;5:244.

Brancati F, et al. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20.

Parisi M, et al. Joubert Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jul 9 [updated 2017 Jun 29].

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