Noonan Syndrome Type 1
TEST CODE | MG02240 |
TEST NAME | Noonan Syndrome Type 1 |
RELATED GENE | PTPN11 |
SYNONYMOUS | PTPN11 |
OMIM | 163950 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Noonan Syndrome Type 1 is an autosomal dominantly inherited disease. Mutations in the PTPN11 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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