Bloom Syndrome
TEST CODE | MG03930 |
TEST NAME | Bloom Syndrome |
RELATED GENE | BLM |
SYNONYMOUS | BLM |
OMIM | 210900 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Bloom Syndrome is an Autosomal Recessively inherited disease. Mutations in the BLM 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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