Elsevier

Genetics in Medicine

Volume 19, Issue 7, July 2017, Pages 796-802
Genetics in Medicine

Original Research Article
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

https://doi.org/10.1038/gim.2016.197Get rights and content
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Abstract

Purpose

Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.

Methods

We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES).

Results

We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES. In the majority of cases (targeted sequencing: 45/53, 85%; WES: 63/68, 93%), the detected variants were concordant with, and therefore supported, the clinical diagnoses. However, in the remaining 13 cases (8 patients by target sequencing and 5 patients by WES), the clinical diagnoses were incompatible with the detected variants.

Conclusion

Our approach utilizing targeted sequencing and WES achieved satisfactory diagnostic rates and supported the efficacy of massive parallel sequencing as a diagnostic tool for IBMFS.

Genet Med advance online publication 19 January 2017

Keywords

Fanconi anemia
inherited bone marrow failure
next-generation sequencing
target sequencing
whole-exome sequencing

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