Peroxisome Disorders: Deletion/Duplication Panel

Condition Description

Peroxisomes are intracellular organelles with diverse cellular functions including biosynthesis, catabolism and detoxification of various compounds. Inborn errors of metabolism of peroxisomes function are roughly divided into peroxisome biogenesis disorders and single enzyme or transporter defects. This panel is designed for comprehensive testing for the following peroxisomal disorders:
  1. Peroxisome biogenesis disorders, also called Zellweger syndrome spectrum (PBD, ZSS) that include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).
  2. X-linked adrenoleukodystrophy and adrenomyeloneuropathy.
  3. Rhizomelic Chondrodysplasia Punctata, Types 1, 2, and 3.
  4. Refsum Disease or phytanoyl-CoA hydroxylase deficiency.
  5. Acyl-CoA oxidase (ACOX1) deficiency.
  6. D-bifunctional protein (DBP) deficiency
  7. 2-Methylacyl-CoA racemase (AMACR) deficiency.
  8. Acatalasaemia.
  9. Hyperoxaluria Type 1 or alanine glyoxylate aminotransferase deficiency.
  10. Mulibrey nanism.
  11. Sterol carrier protein X (SCP2) deficiency.
  12. DNM1L-related encephalopathy.
  13. ABCD3-related congenital bile acid synthesis defect
  1. GeneReviews.

Genes (15)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:

  • Confirmation of a clinical/biochemical diagnosis of peroxisomal disorders.
  • Carrier testing in adults with a family history of peroxisomal disorders.



Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Peroxisome Disorders: Sequencing Panel
  • Individual gene sequencing and deletion/duplication analysis are available for the following genes: ABCD1, PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, and PEX26

How to Order