DARS2 Sequence Analysis
TEST CODE | MG06150 |
TEST NAME | DARS2 Sequence Analysis |
RELATED GENE | DARS2 |
SYNONYMOUS | DARS2 |
OMIM | 611105 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Leukoencephalopathy (LBSL), characterized by Brainstem and Spinal Cord Involvement and High Lactate Level, is an Autosomal Recessively inherited disease. Mutations in the DARS2 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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