Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.

Background/objectives: Café-au-lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the role of an established CALMs screening clinic in diagnosing CALMs-related disorders.

Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.

Mitochondrial aminoacyl-tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl-tRNA synthetase deficiencies diagnosed in a single neurometabolic clinic. We report five patients with mitochondrial aminoacyl-tRNA synthetase deficiencies including , , , and deficiencies.

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Background: Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the genes from a single clinical molecular diagnostic laboratory.

Methods: We reviewed electronic patient charts.

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.

Genetic diagnosis of childhood epilepsy is crucial to provide disease-specific treatments. This report describes the genetic landscape of childhood epilepsy revealed by targeted next-generation sequencing panels for epilepsy (TNGSP-E) and whole exome sequencing (WES). In this retrospective cohort study, TNGSP-E and/or WES were applied to identify underlying genetic diagnoses in children seen in a single Pediatric Epilepsy Genetics Clinic.

Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.

Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer's disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling.