Zellweger Spectrum Disorder DNA Test

Are you a genetic carrier for Zellweger spectrum disorder? Find out with this DNA Test.

  • Detects one PEX1 gene variant which causes the mild and intermediate forms of Zellweger spectrum disorder
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Zellweger spectrum disorder is a group of inherited conditions that share commons signs and symptoms. It includes three conditions, which were previously thought to be distinct disorders, but are now considered to be part of the same condition spectrum.

Zellweger spectrum disorders are caused by the reduction or absence of functional peroxisomes, membrane-bound compartments inside cells. Peroxisomes hold enzymes necessary to break down different molecules including fatty acids and toxins. People with Zellweger spectrum disorders produce abnormal peroxins, which are proteins that assist in the formation of peroxisomes. Without functional peroxisomes, cells are unable to produce fats used in digestion and in the nervous system, leading to symptoms of the disorder. 

Take this test to find out if you are a genetic carrier of a PEX1 variant and are at risk of passing it to your children.

The Genetics

Zellweger spectrum disorders are caused by genetic variation in one or more of the PEX genes. These genes provide instructions to produce peroxins necessary for peroxisome biogenesis. Approximately 60% of affected people carry genetic variants in the PEX1 gene associated with the mild and intermediate forms.

Zellweger spectrum disorders are inherited in an autosomal recessive pattern, which means two defective copies of the PEX1 gene must be inherited in order for Zellweger spectrum disorder to manifest.

Variant Tested

This test detects one genetic variant in the PEX1 gene which causes the mild and intermediate forms of Zellweger spectrum disorder. 

  • rs61750420 T (G843D)

Understanding your carrier status will help you understand the risk of passing this variant to your children.

Signs and Symptoms

Characteristic symptoms include: 

  • Weak muscle tone (hypotonia)
  • Feeding problems
  • Loss of vision
  • Hearing loss
  • Seizures
  • Life-threatening problems involving other organs including the liver, heart and kidneys.
  • Skeletal abnormalities
  • Distinct facial features such as a flattened face, broad nasal bridges and a high forehead

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.