Gangliosidosis Type 1, 2, 3

TEST CODE MG01120
TEST NAME Gangliosidosis Type 1, 2, 3
RELATED GENE GLB1
SYNONYMOUS GLB1
OMIM Tip1: 230500, Tip2: 230600, Tip3: 230650
HEREDITY Autosomal Recessive
CLINICAL AREA Gangliosidosis Type 1, 2, 3 (GM1G1, GM1G2, GM1G3) is an Autosomal Recessively inherited disease. Mutations in the GLB1 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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