Super Oxide Dismutase (SOD) Tesing

Description:
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. About 5-10% of ALS cases are familial, predominantly with an autosomal dominant pattern of inheritance. Pathogenic mutations in the Cu/Zn superoxide dismutase (SOD1) gene have been described in about 20% of patients with familial ALS (FALS).

Reasons for having SOD testing:

  • Confirmation of diagnosis of possible SOD-1 mutation in suspected patients.

    Testing:
    The five axons of SOD1 gene are PCR amplified using specifically designed primers. The products of the amplification are then sequenced to search for mutations. The results are 99% accurate.

    For further information on SOD Testing at the Center please email alscenter@columbia.edu or call 212-305-1319.


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