A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

doi:10.1111/bjh.14221

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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

British journal of haematology - 1 Oct 2016

Roy Noémi B A, Wilson Edward A, Henderson Shirley, Wray Katherine, Babbs Christian, Okoli Steven, Atoyebi Wale, Mixon Avery, Cahill Mary R, Carey Peter, Cullis Jonathan, Curtin Julie, Dreau Helene, Ferguson David J P, Gibson Brenda, Hall Georgina, Mason Joanne, Morgan Mary, Proven Melanie, Qureshi Amrana, Sanchez Garcia Joaquin, Sirachainan Nongnuch, Teo Juliana, Tedgård Ulf, Higgs Doug, Roberts David, Roberts Irene, Schuh Anna

Abstract excerpt

Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation of negative...

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PMID: 27432187
DOI: 10.1111/bjh.14221
PMCID: PMC5132128

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