According to the diagnostic workflow, the average cost of the targeted NGS (534.7 US dollars per patient) is lower than that of the sequential testing (734.5 US dollars per patient). Five genes were involved ( RET, n = 3 SDHB, n = 3 SDHD, n = 2 EGLN1, n = 1 and NF1, n = 1). A total of 22.7% with apparently sporadic PPGL carried a variant. Twenty-nine patients were included, among whom a germline variant was identified in 34.5%. We simulated the diagnostic workflow to examine the anticipated costs based on each strategy for genetic testing. Validation was carried out by Sanger sequencing. A gene list covering 17 susceptibility genes related to hereditary PPGLs was developed for targeted sequencing. Patients with proven PPGLs were enrolled. This study aimed to compare the costs related to PPGL genetic testing between the sequential testing using the decisional algorithm proposed in the 2014 Endocrine Society guidelines and targeted NGS gene panels. Next-generation sequencing (NGS) enables accurate, fast, and inexpensive genetic testing. Current guidelines recommend genetic testing for all patients with PPGLs. Pheochromocytomas and paragangliomas (PPGLs) are highly heritable tumours, with up to 40% of cases carrying germline variants.
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