…). The Amyotrophic Lateral Sclerosis Panel and Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Panel have all been expanded to include more genes involved in ALS and FTD. Amyotrophic Lateral Sclerosis (ALS) ALS is a progressive…

…Disease Fragile X Syndrome Frontotemporal Dementia Galloway-Mowat Syndrome Glutaric Acidemia Greig Cephalopolysyndactyly Syndrome Hemiplegic Migraine Hirschsprung Disease Holoprosencephaly Huntington Disease Hydrocephalus Hyperammonemia…

…Panel  Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel    How is APOE reported for cardiology and metabolic indications?  For indications related to lipoprotein disorders, particularly Type III hyperlipoproteinemia…

…Fraser Syndrome Frontotemporal Dementia Glutaric Acidemia Glycogen Storage Disease Hemiplegic Migraine Joubert Syndrome L1 Syndrome Leukoencephalopathy Limb-Girdle Muscular Dystrophy Malignant Hyperthermia Metabolic Myopathies…

…). About 50% of patients also develop cognitive and behavioral impairment and another 13% develop frontotemporal dementia (van Es et al. 2017. PubMed ID: 28552366). The mean age of symptom onset is 55 years of age for familial cases and 65 years…

…, progressing to muscle wasting and paralysis. Clinical Features Limb Onset • Muscle weakness • Atrophy in limbs • Muscle twitches • Muscle cramps Bulbar Onset • Difficulty chewing or swallowing • Slurred speech Frontotemporal Dementia Less Common…