Next-generation sequencing useful in pediatric cholestasis diagnosis

Next-generation sequencing (NGS) has the potential to provide a certain diagnosis in many cases of pediatric cholestasis, according to a study.

Molecular sequencing was performed on 602 children presenting with cholestasis. The panel included 34 genes involved in cholestasis and jaundice.

Patients were classified into the following categories:

-Certain diagnosis
-Suggest diagnosis: genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number
-Uncertain diagnosis: clinical and para-clinical findings were not consistent enough with molecular findings

In 28.1% of patients (n = 169) a certain diagnosis was established, in 6.6% of patients (n = 40) a suggest diagnosis was made, and in 3.5% of patients (n = 21) an uncertain diagnosis was established. No molecular defect was identified in 61.7% of patients (n = 372).

Reference
Almes M, Spraul A, Ruiz M, et al. Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis. Diagnostics (Basel). 2022;12(5):1169. doi: 10.3390/diagnostics12051169. PMID: 35626323.

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