Spastic Ataxia of Charlevoix - Saguenay

TEST CODE MG05600
TEST NAME Spastic Ataxia of Charlevoix – Saguenay
RELATED GENE SACS
SYNONYMOUS SACS
OMIM 270550
HEREDITY Autosomal Recessive
CLINICAL AREA Spastic Ataxia Charlevoix-Saguenay Type is an autosomal recessive inherited disease. Mutations in the SACS gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 ml
TAT 40 DAYS

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