Treacher Collins Syndrome Type 1
TEST CODE | MG02910 |
TEST NAME | Treacher Collins Syndrome Type 1 |
RELATED GENE | TCOF1 |
SYNONYMOUS | TCOF1 |
OMIM | 154500 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Treacher Collins Syndrome Type 1 is an Autosomal Dominant inherited disease. Mutations in the TCOF1 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Semen / Tese Dokusu |
QUANTITY | 3 mL |
TAT | 20 DAYS |
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