Goltz syndrome

TEST CODE MG01200
TEST NAME Goltz syndrome
RELATED GENE PORCN
SYNONYMOUS PORCN
OMIM 305600
HEREDITY X-linked Dominant
CLINICAL AREA Goltz Syndrome is an X-linked dominantly inherited disease. Mutations in the PORCN 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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