NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH
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Ref: LV3502
Categories: Analysis and genetic studies, Cardiology, Endocrinology, Gastroenterology, Genetic Diagnosis by next generation sequencing, List of Diseases, Lysosomal Panel, Molecular Genetic Diagnosis, Neuropediatrics, Ophthalmology, Otolaryngology, Pediatrics, Rheumatology, Traumatology
Diseases: Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic acidGenes: AGA, CTNS, CTSA, MLYCD, MVK, SLC17A5, GAMT, SLC6A8, SUMF1, XDH, GNE, GATMDelivery term: 42 days