Tessarae has launched integrated product solutions for genetic testing of the mutations that underlie human hereditary diseases.
The combination of Tessarae's knowledge in microarray-based resequencing with novel nucleotide sequence base-calling algorithms and analysis software enables screening for all targeted mutations in multiple genes of a syndrome or disorder simultaneously.
This reduces total testing cost and time to result without compromising test accuracy and usability for providers of genetic testing services.
The first solution, offered by GeneDx, is for Noonan Syndrome, a genetic disorder that causes abnormal development of multiple parts of the body.
'Implementation of the custom-designed resequencing solution from Tessarae, which simultaneously detects all known mutations and screens for missense mutations in eight genes of the RAS/MAPK pathway, allows GeneDx to offer a more comprehensive test at a lower cost and and much faster turnaround time,' said John Compton, co-president and scientific director of GeneDx.
'We plan to offer Tessarae-developed resequencing microarray-based testing for Periodic Fever Syndromes in the immediate future,' he added.
