Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

The objective of this work, apart from reviewing the currently known genes associated with CHH, was to summarize the advantages and disadvant ages of the NGS-based platforms and through the authors’ own practice to guide through the whole workflow starting from gene panel design, performance analysis and result interpretation. Based on our results, a genetic diagnosis was clearly identified in 21% of cases tested (8/38).
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research