Barth Syndrome

TEST CODE MG06530
TEST NAME Barth Syndrome
RELATED GENE TAZ
SYNONYMOUS TAZ
OMIM 302060
HEREDITY X-Linked Recessive
CLINICAL AREA Barth Syndrome is an x-linked recessive disease. Mutations in the TAZ 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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