Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-related: PEX14 Gene Deletion/Duplication

Condition Description

As of March 1, 2021, NTD Genetics will no longer accept samples for this test. For questions, please call: 470-378-2200.

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum that encompasses three distinct phenotypes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).  Individuals with PBD, ZSS usually present during the newborn period or later in childhood.  Features during the newborn period include hypotonia, poor feeding, distinctive facial features, seizures, and liver cysts with hepatic dysfunction.  Infants with ZS, the most severe phenotype on the spectrum, are significantly impaired and usually do not survive past the first year of life.  Those that do survive past the first year have developmental delay with hypotonia, liver dysfunction, sensorineural hearing loss, and retinal dystrophy.  Features of NALD and IRD (the least severe phenotype on the spectrum) are variable.  They include developmental delays, liver dysfunction, episodes of intracranial bleeding, hearing loss, and vision impairments.  PBD, ZSS can be slowly progressive. 

PBD, ZSS is inherited in an autosomal recessive manner.  Biochemical assays can definitively diagnose PBD, ZSS.  Mutations in twelve different PEX genes have been identified to cause PBD, ZSS.  They are the PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26 genes.  About 68% of individuals with PBD, ZSS have mutations in the PEX1 gene.  Mutations in the PEX6, PEX10, PEX12, and PEX26 genes account for an additional 26% of mutations in individuals with PBD, ZSS. 

Please note that this test is for the PEX14 gene (1p36.2) only.

For patients with suspected PBD, ZSS, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.


Genes (1)


This test is indicated for:
  • Confirmation of a clinical diagnosis of peroxisome biogenesis disorders, Zellweger syndrome spectrum in an individual in whom sequence analysis was negative.
  • Carrier testing in adults with a family history of peroxisome biogenesis disorders, Zellweger syndrome spectrum in whom sequence analysis was negative.


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


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
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.
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.

Special Instructions

  • Submit copies of diagnostic biochemical test results with the sample, if appropriate. Contact the laboratory if further information is needed.
  • Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.
  • Sequence analysis of the PEX14 gene is available and is required before deletion/duplication analysis. 
  • Sequence and deletion/duplication analysis for the PEX1, PEX2, PEX3, PEX5, PEX6, PEX12 and PEX26 genes are also available.
  • Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
  • Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.

How to Order

Requisition Forms