Progene DX has identified statistically significant over-expressed and under-expressed genes and proteins in blood, relative to reference expression levels, for patients with CIRS. All gene expression measurements are done in our Florida laboratory. Gene expression measurements are taken by extracting total ribonucleic acid (tRNA) from peripheral blood cells (PBLs). Progene DX has moved to next generation sequencing (NGS) using an Illumina platform for gene expression analysis, or RNAseq.
Objective diagnosis of CIRS is a critical first step in applying restorative therapies. Several irregularities in protein expression have now been identified in patients with CIRS, dominated by (1) lack of regulation of host inflammatory response as evidenced by deficiency of alpha melanocyte stimulating hormone (MSH) and/or vasoactive intestinal polypeptide (VIP); (2) presence of more than one of Th1 responses (pro-inflammatory); Th2 responses (anti-inflammatory); Th17 responses (tied to transforming growth factor beta-1 (TGFβ-1)); coagulation abnormalities, especially abnormalities in von Willebrand’s profile; activation of complement split products; activation of elements under regulation of hypoxia inducible factor including vascular endothelia growth factor (VEGF) and erythropoietin; abnormal regulation of ACTH responses to cortisol and ADH responses to osmolality.

The genomics investigation of CIRS is focused on the expression of genes, or transcriptomics. Several irregularities in gene expression have been identified in patients with CIRS, dominated by genes involved in the production of immunoglobulins. Additionally, a handful of micro RNAs have been identified in patients, including Let7 MIR23 family members.