Abstract
Advances in genetic testing technologies allow for deep sequencing with improved ability to diagnose neurocutaneous and other genetic disorders with higher sensitivity. These newer molecular technologies have also increased the ability to detect low levels of mosaicism. This has impacted the understanding of the natural history of neurocutaneous disorders, contributed to phenotypic expansion of many genes, and created new challenges to both clinical interpretation and medical management recommendations. With improved testing, more individuals with neurocutaneous disorders are being diagnosed with mosaicism and low-level mosaicism in well-known genes, as well as newer genes associated through pathway and functional studies. As more individuals are diagnosed with mosaicism and low-level mosaicism by newer techniques, clinicians are likely to encounter some uncertainty about management and counseling of these individuals. This paper provides a practical approach to patients suspected to have and identified with mosaic neurocutaneous disorders.
Published Version
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