Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel
38 genes
2 - 3 weeks (7 - 16 days STAT)
Who is this test for? | Patients with ALS typically present with upper and lower motor neuron impairment with other diagnoses excluded via imaging and neurophysiological examinations. Diagnosis can be difficult as sites of symptom onset and disease progression can be variable. Other screening tools used for ALS include the ALS-Brief Cognitive Assessement (ALS-BCA), the ALS Cognitive Behavioral Scressn (ALS-CBS) and the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) (van Es et al. 2017. PubMed ID: 28552366). The International Behavioral Variant FTD Criteria Consortium (FTDC) defines diagnosis for bvFTD as patients that present with three of the six clinical features: disinhibition, apathy, loss of sympathy, compulsive behaviors, hyperorality, and/or dysexecutive neuropsychologic profile.  Diagnosis for PPA includes language deficits as the primary cause of impaired living and aphasia being most prominent at symptom onset. |
Method | NGS with CNV (Exome or Genome Platform) |
Specimen(s) | Exome Platform: Blood, DNA, Buccal, Saliva, Tissue Genome Platform: Blood, DNA |
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