Congenital Neutropenia Type 1
| TEST CODE | MG01580 |
| TEST NAME | Congenital Neutropenia Type 1 |
| RELATED GENE | ELANE |
| SYNONYMOUS | ELANE |
| OMIM | 202700 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Congenital Neutropenia Type 1 (SCN1) is an autosomal dominantly inherited disease. Mutations in the ELANE 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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