PKAN Syndrome

TEST CODE MG02440
TEST NAME PKAN Syndrome
RELATED GENE PANK2
SYNONYMOUS PANK2
OMIM 234200
HEREDITY Autosomal Recessive
CLINICAL AREA PKAN Syndrome is an Autosomal Recessively inherited disease. Mutations in the PANK2 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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