Pfeiffer Syndrome
TEST CODE | MG02410 |
TEST NAME | Pfeiffer Syndrome |
RELATED GENE | FGFR2 |
SYNONYMOUS | FGFR2 |
OMIM | 101600 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Pfeiffer Syndrome is an autosomal dominantly inherited disease. Mutations in the FGFR2 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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