Goltz syndrome
TEST CODE | MG01200 |
TEST NAME | Goltz syndrome |
RELATED GENE | PORCN |
SYNONYMOUS | PORCN |
OMIM | 305600 |
HEREDITY | X’e bağlı 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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