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List of laboratory testing performed prior to whole exome sequencing; all results were normal.
| Chemistry 10 panel |
| Complete blood count |
| Liver function testing (AST, ALT, GGT, Albumin, Bilirubin) |
| Thyroid testing (TSH, FT4) |
| serum amino acids |
| urine organic acids |
| urine homovanillic acid |
| urine vanillymandelic acid |
| leukocyte lysosomal enzymes |
| urine sialic acid |
| transferrin isoelectric focusing |
| comparative genomic hybridization microarray |
| GLC2 gene sequencing |
| PLP1 gene sequencing |
