Ehlers-Danlos Syndrome Type 7A
TEST CODE | MG04650 |
TEST NAME | Ehlers-Danlos Syndrome Type 7A |
RELATED GENE | COL1A1 |
SYNONYMOUS | COL1A1 |
OMIM | 130060 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Ehlers-Danlos Syndrome Type 7A is an autosomal dominantly inherited disease. Mutations in the COL1A1 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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