With our LEA2 assay, it is possible to multiplex the diagnostics for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IIIB (Sanphilippo syndrome B), MPS IVa (Morquio A syndrome), MPS VI (Maroteaux Lamy syndrome) and MPS VII (Sly syndrome).
Fast and easy
No time-wasting stepwise diagnostics is needed any more, instead of weeks the reports are available within a few days. Additionally, genetic confirmatory testing using the power of Next-Generation Sequencing is available from the same Dried Blood Spot.
We also offer a new enzymatic test for CLN2 (late infantile neuronal ceroid lipofuscinosis type 2) disease, an ultra-rare and rapidly progressing pediatric brain disorder and one of the most common forms of neuronal ceroid lipofuscinosis, a group of inherited disorders collectively known as Batten disease.
Furthermore we provide a new confirmatory genetic test for the detection of mutations on the tripeptidyl peptidase 1 (TPP1) gene from the same Dried Blood Spot.