Methylmalonic Acidemia Panel (15 Genes)
| TEST CODE | MGT0150 |
| TEST NAME | Methylmalonic Acidemia Panel (15 Genes) |
| RELATED GENE | ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1 |
| SYNONYMOUS | ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Methylmalonic acidemia (MMA) is an autosomal recessive inherited metabolic disease characterized by the elevation of methylmalonic acid in blood, urine and cerebrospinal fluid due to the hydrolysis of Methylmalonyl-CoA into methylmalonic acid, which cannot be converted into succinyl-CoA. Within the scope of the panel, 15 genes associated with the disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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