List of diseases covered by
Zellweger Spectrum Disorders NGS panel
| Gene | Condition |
| PEX1 | Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD); Heimler syndrome 1 |
| PEX2 | Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B |
| PEX3 | Peroxisome biogenesis disorder 10B; Peroxisome biogenesis disorder 10A (Zellweger) |
| PEX5 | Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 |
| PEX6 | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 |
| PEX7 | Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 |
| PEX10 | Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B |
| PEX12 | Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B |
| PEX13 | Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B |
| PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) |
| PEX16 | Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B |
| PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) |
| PEX26 | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B |
| PHYH | Refsum disease |