Sialidosis Type 1

TEST CODE MG02710
TEST NAME Sialidosis Type 1
RELATED GENE NEU1
SYNONYMOUS NEU1
OMIM 256550
HEREDITY Autosomal Recessive
CLINICAL AREA Sialidosis Type 1 is an autosomal recessively inherited disease. Mutations in the NEU1 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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