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Genetic tests available in USLD for confirmation of metabolic disorders.
| Gene | Disease |
|---|---|
| PHA | Phenylketonuria |
| GLA | Fabry disease |
| CBS | Homocystinuria |
| ASPA | Canavan disease |
| ACADS | SCAD |
| SH2D1A | X-linked adrenoleukodystrophy |
| TAZ | Barth syndrome |
| MVK | Mevalonic aciduria |
