Zellweger syndrome gene panel

🧬 Typical Genes in a Zellweger Syndrome / ZSD Panel

Zellweger syndrome is part of the peroxisome biogenesis disorders (PBDs). Gene panels focus on the PEX gene family, which encode proteins required for proper peroxisome assembly and function. Mutations in these genes lead to the Zellweger spectrum disorders.

Core PEX Genes Usually Tested:

1. PEX1 – peroxisome biogenesis factor 1

2. PEX2 – peroxisome biogenesis factor 2

3. PEX3 – peroxisome biogenesis factor 3

4. PEX5 – peroxisome biogenesis factor 5

5. PEX6 – peroxisome biogenesis factor 6

6. PEX10 – peroxisome biogenesis factor 10

7. PEX12 – peroxisome biogenesis factor 12

8. PEX13 – peroxisome biogenesis factor 13

9. PEX14 – peroxisome biogenesis factor 14

10. PEX16 – peroxisome biogenesis factor 16

11. PEX19 – peroxisome biogenesis factor 19

12. PEX26 – peroxisome biogenesis factor 26

Additional Genes in Extended Panels

Some laboratories include extra genes to cover related peroxisomal disorders or milder phenotypes:

• PEX11B, PEX11G – peroxisome proliferation factors

• PEX15, PEX11A – other peroxisome assembly-related genes

Purpose of Testing These Genes

• Diagnosis: Confirm suspected Zellweger spectrum disorder

• Carrier Screening: Identify heterozygous carriers in families

• Prenatal Testing / Family Planning: Assess risk in offspring

• Differential Diagnosis: Distinguish ZSD from other metabolic or neurologic disorders#ourdermastore #skincare #beauty #wellness #selfcare #glowup #healthyskin #radiance #viral #trending #photooftheday #skincareroutine #skincarecommunity #beautytips #skincareaddict #beautycare #selflove #healthyhabits #instagood #glowingskin

Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot