Peters-plus syndrome
TEST CODE | MG09330 |
TEST NAME | Peters-plus syndrome |
RELATED GENE | B3GLCT |
SYNONYMOUS | B3GLCT |
OMIM | 610308 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Peters-plus syndrome is an autosomal recessive disease. Mutations in the B3GLCT 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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