Infantile Neuroaxonal Dystrophy 1

TEST CODE MG01400
TEST NAME Infantile Neuroaxonal Dystrophy 1
RELATED GENE PLA2G6
SYNONYMOUS PLA2G6
OMIM 256600
HEREDITY Autosomal Recessive
CLINICAL AREA Infantile neuroaxonal dystrophy 1 (NBIA2A) is an Autosomal Recessively inherited disease. Mutations in the PLA2G6 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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