Is gene panel sequencing more efficient than clinical‐based gene sequencing to diagnose autoinflammatory diseases? A randomized study | Zendy

Rama M. | Zendy; Mura T. | Zendy; KonePaut I. | Zendy; Boursier G. | Zendy; Aouinti S. | Zendy; Touitou I. | Zendy; Sarrabay G. | Zendy

Open Access

Is gene panel sequencing more efficient than clinical‐based gene sequencing to diagnose autoinflammatory diseases? A randomized study

Author(s) -

Rama M.,

Mura T.,

KonePaut I.,

Boursier G.,

Aouinti S.,

Touitou I.,

Sarrabay G.

Publication year - 2021

Publication title -

clinical & experimental immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.329

H-Index - 135

eISSN - 1365-2249

pISSN - 0009-9104

DOI - 10.1111/cei.13511

Subject(s) - mefv , sanger sequencing , dna sequencing , medicine , genetic testing , genotype , gene , gene mutation , biology , genetics , mutation

We enrolled prospectively and randomized 296 patients, and compared NGS panel versus clinical‐based Sanger for the diagnosis of AIDs. NGS panel allowed better diagnostic yield (10.1%) compared to Sanger (4.1%). We concluded that targeted NGS improved the diagnosis and global care of patients with AIDs.

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