Next-Generation sequencing transforming clinical practice and precision medicine.

Next-generation sequencing (NGS) has revolutionized the field of genomics and is rapidly transforming clinical diagnosis and precision medicine. This advanced sequencing technology enables the rapid and cost-effective analysis of large-scale genomic data, allowing comprehensive exploration of the genetic landscape of diseases. In clinical diagnosis, NGS has proven to be a powerful tool for identifying disease-causing variants, enabling accurate and early detection of genetic disorders.

Plexiform neurofibroma in a 16-year-old girl.

Plexiform neurofibroma is a rare, poorly defined benign tumor of the peripheral nerve sheath. It spreads out just under the skin, or deeper in the body, and occurs exclusively in patients with neurofibromatosis type I. Facial plexiform neurofibroma may produce various degrees of cosmetic and functional deformities in the head and neck region.