Ehler Danlos Syndrome Musculocontractural Type
TEST CODE | MG03610 |
TEST NAME | Ehler Danlos Syndrome Musculocontractural Type |
RELATED GENE | CHST14 |
SYNONYMOUS | CHST14 |
OMIM | 601776 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Ehler Danlos Syndrome is a Musculocontractural Type Autosomal Recessive inherited disease. Mutations in the CHST14 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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