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