Hemophagocytic Lymphohistiocytosis HLH Type 5
| TEST CODE | MG00240 |
| TEST NAME | Hemophagocytic Lymphohistiocytosis HLH Type 5 |
| RELATED GENE | STXBP2 |
| SYNONYMOUS | STXBP2 |
| OMIM | 613101 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Hemophagocytic Lymphohistiocytosis is a disease inherited as HLH Type 5. Mutations in the STXBP2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA / Amniotic Fluid / Skin Biopsy / CVS / Abortion material / Cord Blood/ Mucosa/ Other |
| QUANTITY | 3 mL |
| TAT | 30 DAYS |
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