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Description
For mucolipidosis in the medical field, we mean a group of metabolic diseases where an accumulation of lipids and mucopolysaccharides occurs in interstitial tissues. These diseases are also distinguished by the lack of mucopolysaccharides in the urine.
Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 4 |
Genes / Chromosomes / SNPs | GNPTAB, GNPTG, MCOLN1, NEU1 |