The Biofactory has a proprietary test platform optimized for rapid, large-scale screening of trinucleotide repeat disorders. Despite being genetically inheritable (they can be passed from parent to child), they are notoriously difficult to diagnose, as diagnostic methods are expensive, and long-drawn, with disease symptoms often overlapping with other disorders.
At present, the typical diagnostic tests run by genetic laboratories on patient blood samples are Southern blots, which can only process small numbers of samples at a time.
The Biofactory's test platform is based on the Polymerase Chain Reaction and a subsequent melt curve analysis, which can be rapidly carried out on large populations to segregate affected and non-affected individuals. The test platform paves the way for stratified testing, where only a few at-risk individuals are required to go through further tests by Southern blot or capillary electrophoresis.
The Biofactory has optimized the test for use in screening for a prominent trinucleotide repeat disorder: Fragile X syndrome. In an early trial with 500 samples, FastFraX™ Identification Kits achieved 100% sensitivity and >99.5% specificity, and have been awarded the CE-IVD marking.
Global sales of the FastFraX™ kits have already begun via distributor partners in at least three countries.The Biofactory has developed research-use-only FastFraX™ Sizing and FastFraX™ Methylation kits, which will confirm the diagnosis by analyzing the size and methylation status of the affected gene.
When the latter kits obtain the CE mark, The Biofactory will launch the trio of FastFraX™ kits as a complete suite of products for Fragile X diagnosis. Concurrently, The Biofactory is optimizing the proprietary screening platform for other trinucleotide repeat disorders like Huntington disease and myotonic dystrophy.