Griselli Syndrome Type 2 RAB27
TEST CODE | MG04710 |
TEST NAME | Griselli Syndrome Type 2 RAB27 |
RELATED GENE | RAB27 |
SYNONYMOUS | RAB27 |
OMIM | 607624 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Griselli Syndrome Type 2 is an Autosomal Recessively inherited disease. Mutations in the RAB27 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 30 DAYS |
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