Non-Ketotic Hyperglycinemia Panel (3 Genes)
| TEST CODE | MGN0140 |
| TEST NAME | Non-Ketotic Hyperglycinemia Panel (3 Genes) |
| RELATED GENE | GLDC, AMT, GCSH |
| SYNONYMOUS | GLDC, AMT, GCSH |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Non-Ketotic Hyperglycinemia (NKH) is an autosomal recessive inheritance that occurs as a result of the deficiency in the enzyme system involved in glycine metabolism, with increased glycine in serum, cerebrospinal fluid (CSF) and urine. It is a rare metabolic disease characterized by 3 genes associated with the disease are being examined within the scope of the panel.” |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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