Zellweger Syndrome

Test Description:

The peroxisomal biogenesis disorder spectrum is caused by mutations in one of 13 genes that encode proteins required for the formation and functioning of the peroxisome. This spectrum ranges from Zellweger syndrome, on the most severe end, to neonatal adrenoleukodystrophy and infantile Refsum disease on the milder end. Zellweger syndrome (ZS) is characterized by demyelination of structures in the brain leading to leukodystrophy, resulting in seizures and vision loss. ZS is also characterized by dysmorphic features, hypotonia, cardiac problems, and dysfunction of the liver and kidneys. Death typically occurs in the first year of life. The p.R119* mutation in the gene PEX2 was previously reported in a patient of Ashkenazi Jewish background. Testing for this mutation, for which the carrier frequency in the Ashkenazi Jewish population is approximately 1 in 227, is expected to identify over 95% of mutations causing ZS.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Pediatr Res. 2004 Mar55(3):431-6.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: Two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Codes:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel