Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

doi:10.1186/s13073-015-0244-1

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Article

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Genome medicine - 18 Dec 2015

Tesi Bianca, Lagerstedt-Robinson Kristina, Chiang Samuel C C, Ben Bdira Eya, Abboud Miguel, Belen Burcu, Devecioglu Omer, Fadoo Zehra, Yeoh Allen E J, Erichsen Hans Christian, Möttönen Merja, Akar Himmet Haluk, Hästbacka Johanna, Kaya Zuhre, Nunes Susana, Patiroglu Turkan, Sabel Magnus, Saribeyoglu Ebru Tugrul, Tvedt Tor Henrik, Unal Ekrem, Unal Sule, Unuvar Aysegul, Meeths Marie, Henter Jan-Inge, Nordenskjöld Magnus, Bryceson Yenan T

Abstract excerpt

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. METHODS: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with...

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PMID: 26684649
DOI: 10.1186/s13073-015-0244-1
PMCID: PMC4684627

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