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Diagnosis and Treatment

How is SCAR12 or WOREE syndrome diagnosed?

To date, WWOX related syndromes have been diagnosed using Whole Exome Sequencing [WES]. Exome sequencing, is a genomic technique for sequencing all of the protein-coding region of genes in a genome (known as the exome). These regions are known as exons and humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. This technique is much faster (and affordable) than sequencing the entire genome, known as Whole Genome Sequencing [WGS], which could take a very long time to complete and still remains very expensive. More recently, WWOX is starting to be included in Targeted Gene Panels tests. Targeted Gene Panel Testing is a technique in which a number of specific genes that are linked to a particular genetic condition are examined at the same time. This further reduces the cost and time involved in reaching a diagnosis. Most Early Infantile Epileptic Encephalopathy Panels in the USA now include WWOX and it is expected that other regions around the world may include WWOX on their preferred panels soon.