Glutathione Synthetase Deficiency

TEST CODE MG08530
TEST NAME Glutathione Synthetase Deficiency
RELATED GENE GSS
SYNONYMOUS GSS
OMIM 266130
HEREDITY Autosomal Recessive
CLINICAL AREA Glutathione Synthetase Deficiency is an Autosomal Recessively inherited disease. Mutations in the GSS 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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