Whim Syndrome

TEST CODE MG08260
TEST NAME Whim Syndrome
RELATED GENE CXCR4
SYNONYMOUS CXCR4
OMIM 193670
HEREDITY Autosomal Recessive
CLINICAL AREA Whim Syndrome is an autosomal recessive disease. Mutations in the CXCR4 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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