Simpson-Golabi-Behmel Syndrome

TEST CODE MG05870
TEST NAME Simpson-Golabi-Behmel Syndrome
RELATED GENE GPC3
SYNONYMOUS GPC3
OMIM 312870
HEREDITY X-Linked Recessive
CLINICAL AREA Simpson-Golabi-Behmel Syndrome is an X-linked recessive disease. Mutations in the GPC3 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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