Congenital Neutropenia Type 2
TEST CODE | MG01570 |
TEST NAME | Congenital Neutropenia Type 2 |
RELATED GENE | HAX1 |
SYNONYMOUS | HAX1 |
OMIM | 610738 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Congenital Neutropenia Type 2 (SCN3) is a disease inherited in an autosomal recessive manner. Mutations in the HAX1 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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