Leukodystrophy Panel (44 Genes)
| TEST CODE | MGT0350 |
| TEST NAME | Leukodystrophy Panel (44 Genes) |
| RELATED GENE | ABCD1, ADAR, AIMP1, ARSA, ASPA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, L2HGDH, MLC1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SDHA, SOX10, SUMF1, TREX1 |
| SYNONYMOUS | ABCD1, ADAR, AIMP1, ARSA, ASPA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, L2HGDH, MLC1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SDHA, SOX10, SUMF1, TREX1 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Leukodystrophy describes a group of more than 50 inherited neurological disorders. These diseases affect myelin, the protective covering over nerve cells in the brain and spine. Leukodystrophies cause progressive loss of neurological function in infants, children, and sometimes adults. Within the scope of the panel, 44 genes associated with leukodystrophies are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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