Coffin Lowry Syndrome

TEST CODE MG06250
TEST NAME Coffin Lowry Syndrome
RELATED GENE RPS6KA3
SYNONYMOUS RPS6KA3
OMIM 303600
HEREDITY X-Linked Dominant
CLINICAL AREA Coffin Lowry Syndrome is an X-linked dominantly inherited disease. Mutations in the RPS6KA3 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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