Alpha-1 Antitrypsin Deficiency Common Mutation
TEST CODE | MG00530 |
TEST NAME | Alpha-1 Antitrypsin Deficiency Common Mutation |
RELATED GENE | SERPINA1 |
SYNONYMOUS | SERPINA1 |
OMIM | 613490 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Alpha-1 Antitrypsin Deficiency is an autosomal recessive disease. Mutations in the SERPINA1 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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