Amyotrophic Lateral Sclerosis Panel

Amyotrophic Lateral Sclerosis Panel

  • Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive and invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. In ALS, upper and lower motor neurons degenerate or die and stop sending messages to muscles, leading to a gradual weakening of the muscles. Symptoms start off as very fine twitches, and eventually the ability of the brain to start and control voluntary movement is lost. Most individuals who are affected by the disease will lose their strength and ability to move their arms, legs, and body as well as the ability to breathe without ventilator support, and will die due to respiratory failure (1). About 5,000 people in the US are diagnosed with ALS each year and the disorder occurs in about 2-5 per 100,000 individuals. Mutations in several genes can cause familial ALS. These genes are key to the normal functioning of motor neurons and other cells; mutations in these genes can lead to a disruption in the development of specialized nerve cells that transmit nerve impulses (2). Genetic testing is crucial for early detection, and to help with the assessment of risks of affected individuals and their family members.
  • Genes (37): ABCC2, ABCD1, ABCG5, ABHD12, ACAD8, ALS2, ANG, ARHGEF28, ATXN2, C9ORF72, CDH13, CHGB, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, MATR3, NEFH, OPTN, PFN1, PRPH, PSEN2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TARDBP, TBK1, TRPM7, UBQLN2, VAPB, VCP, and VEGFA
    Test Code: 5021
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Amyotrophic Lateral Sclerosis Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81403×1, 81405×2, 81406×5, 81407×2, 81479×27
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests: None
  • References:
    1. http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm
    2. https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis#genes

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