Ehlers-Danlos Syndrome Type 3
TEST CODE | MG00910 |
TEST NAME | Ehlers-Danlos Syndrome Type 3 |
RELATED GENE | TNXB |
SYNONYMOUS | TNXB |
OMIM | 606408 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Ehlers – Danlos Syndrome (EDSCLL) is an Autosomal Recessively inherited disease. Mutations in the TNXB 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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