Langer-Giedion Syndrome
TEST CODE | MG01700 |
TEST NAME | Langer-Giedion Syndrome |
RELATED GENE | TRPS1 |
SYNONYMOUS | TRPS1 |
OMIM | 604386 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Langer – Giedion Syndrome is an Autosomal Dominant inherited disease. Mutations in the TRPS1 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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