D-Bifunctional Protein Deficiency DNA Test

Are you a genetic carrier for D-bifunctional protein deficiency? Find out with this DNA Test.

  • Detects two variants in the HSD17B4 gene which cause D-bifunctional protein deficiency
  • Carrier screening test intended for couples who are planning to become pregnant
  • Determine the risk of your child inheriting D-bifunctional protein deficiency
  • 100% private and confidential online results

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Detailed Description

D-bifunctional protein (DBP) deficiency is an inherited metabolic disorder that affects the body’s ability to break down fat from the diet. It is caused by reduced activity of DBP, an enzyme found in peroxisomes, a sac-like compartment within the cell where dietary fats are broken down. In the absence of properly functioning DBP, fatty acids accumulate inside cells, leading to organ damage.

Signs and symptoms of the disease vary based on DBP activity levels. Most affected newborns present with characteristic symptoms, which include hypotonia (low muscle tone) and seizures in the first month of life.

Take this test to find out if you are a genetic carrier of an HSD17B4 variant and are at risk of passing the variant to your children.

The Genetics

DBP deficiency is caused by genetic variation in the HSD17B4 gene. These variants impair the function of DBP, preventing it from properly breaking down dietary fats, resulting in a buildup of fatty acids (building blocks of fats) in the body.

DBP deficiency is inherited in an autosomal recessive pattern, which means two defective copies of the HSD17B4 gene must be inherited in order for the disease to manifest.

Variants Tested

This test detects two genetic variants of HSD17B4 which cause DBP deficiency.

  • rs137853096
  • rs137853097

Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.

Signs and Symptoms of DBP Deficiency

Characteristic symptoms include: 

  • Low muscle tone (hypotonia)
  • Seizures in the first month of life
  • High forehead
  • High roof of mouth
  • Enlarged fontanelle
  • Widely spaced eyes
  • Enlarged liver (hepatomegaly)
  • Eye problems
  • Progressive hearing loss
  • Brain abnormalities

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.