Lowe Syndrome

TEST CODE MG04090
TEST NAME Lowe Syndrome
RELATED GENE OCRL
SYNONYMOUS OCRL
OMIM 309000
HEREDITY X-linked Recessive
CLINICAL AREA Lowe Syndrome is an X-linked Recessively inherited disease. Mutations in the OCRL 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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