279 genes panel for rare immune disorders – GRID
University of Cambridge scientists have developed a genetic panel covering nearly all known mutations leading to primary immunodeficiencies. This is the first in the world comprehensive approach to molecular diagnosis of rare immune disorders.
The panel utilizes high-throughput sequencing of 279 genes previously associated with various primary immunodisorders. Retrieved sequenced are analysed by the means of variants (SNV), entire-fragment changes (indels), and copies in the genome (CNV). Features interesting for a diagnosis are graded by priority.
Both sensitivity and specificity reach 98-99% success rate.
GRID screen was tested on 86 patients with primary immunodeficiency without specific diagnosis. The results were assessed by multi-disciplinary team. In case of 10 patients (11,6%), GRID led to precise diagnosis.
Medical staff can collaborate with GRID creations through website: http://grid.cambridgednadiagnosis.org.uk/.
More: “GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies”, I. Simeoni, 2018, doi:10.1101/431544.