Ehlers-Danlos Syndrome Type 4
TEST CODE | MG00920 |
TEST NAME | Ehlers-Danlos Syndrome Type 4 |
RELATED GENE | COL3A1 |
SYNONYMOUS | COL3A1 |
OMIM | 130050 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Ehlers – Danlos Syndrome (EDSVASC) is an Autosomal Dominant inherited disease. Mutations in the COL3A1 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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