Menkes Syndrome

TEST CODE MG01840
TEST NAME Menkes Syndrome
RELATED GENE ATP7A
SYNONYMOUS ATP7A
OMIM 309400
HEREDITY X linked Recessive
CLINICAL AREA Menkes Syndrome (MNK) is an X-linked Recessively inherited disease. Mutations in the ATP7A 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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