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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