Noonan Spectrum Assay Development
Your Development. Our Platform.
The TessArae Noonan Spectrum Panel was developed in collaboration with GeneDx, a commercial testing lab specializing in rare genetic diseases. This custom assay simultaneously screens for the presence of 164 known mutations in 8 different genes. See the number of mutations in each gene.
GeneDx Took the Straight Line. See Where it Took Them.
Partnering with TessArae accelerates your development of a turnkey Noonan Spectrum Assay that truly delivers.
Fast From extracted sample to a gene-by-gene, locus-by-locus list of detected mutations in less than 24 hours. TessArae enables the development of the fastest multiplexed sequencing assays available today.
Precise The DNA sequence is provided at each locus – indicating wildtype or mutant, and heterozygous or homozygous. Sophisticated confidence metrics give you the accuracy you need.
Rapid Initially developed for postnatal testing, Noonan spectrum testing is increasingly used as a reflex test for prenatal cases with abnormal ultrasound findings: including increased nuchal translucency but with normal cytogenetic profiles. The rapid time-to-result of the Noonan Spectrum panel allows GeneDx to provide results in as little as 2-3 weeks.
Validated At the March 2011 ACMG Conference, GeneDx presented results from 820 postnatal tests. Seventeen novel mutations were identified, two of which were de novo mutations, clearly illustrating the power of TessArae technology to detect both known and novel single base mutations and variants.