Genomic analysis of adult thrombotic microangiopathies in less than 3 days: From rapid to fast genomics to treatment
Résumé
Using nanopore sequencing, we showed feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies (TMAs) in 18 prospective cases, achieving diagnoses in less than three days. We compared results to standard exome sequencing, cost-efficiency and complement blockade initiation.
Autosomal recessive
Methylmalonic Aciduria and Homocystinuria, cblC type 26 days 5 days 2 CFH (NM_000186.4 :c.1137G>A, p.W379Ter)