Mucolipidosis Type 2 A/B

TEST CODE MG03120
TEST NAME Mucolipidosis Type 2 A/B
RELATED GENE GNPTAB
SYNONYMOUS GNPTAB
OMIM 252500
HEREDITY Autosomal Recessive
CLINICAL AREA Mucolipidosis Type 2 A/B is an autosomal recessive inherited disease. Mutations in the GNPTAB 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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