Ataxia Telangiectasia MLPA
| TEST CODE | MG07770 |
| TEST NAME | Ataxia Telangiectasia MLPA |
| RELATED GENE | ATM |
| SYNONYMOUS | ATM |
| OMIM | 208900 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Ataxia telangiectasia is an autosomal recessively inherited disease. Mutations in the ATM gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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