Holocarboxylase synthetase deficiency
| TEST CODE | MG10780 |
| TEST NAME | Holocarboxylase synthetase deficiency |
| RELATED GENE | HLCS |
| SYNONYMOUS | HLCS |
| OMIM | 253270 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Holocarboxylase synthetase deficiency is an Autosomal Recessively inherited disease. Mutations in the HLCS 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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