COL2A1 Sequence Analysis
TEST CODE | MG03330 |
TEST NAME | COL2A1 Sequence Analysis |
RELATED GENE | COL2A1 |
SYNONYMOUS | COL2A1 |
OMIM | 108300 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Stickler syndrome is an autosomal dominantly inherited disease. Mutations in the COL2A1 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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