Pendred Syndrome and DFNB4 Hearing Loss DNA Test

Are you a genetic carrier for a disorder characterized by early hearing loss? Find out with this DNA Test.

  • Detects six SLC26A4 variants which cause Pendred syndrome and DFNB4 hearing loss
  • Carrier screening test intended for couples who are planning to become pregnant
  • Determine if your child is at risk of hearing loss and thyroid abnormalities
  • 100% private and confidential online results

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Detailed Description

Pendred syndrome is a genetic disorder characterized by hearing loss and the abnormal enlargement of the thyroid gland (goiter). Most affected children are profoundly deaf at birth, due to changes in the inner ear where the vestibular aqueduct, a bony canal that connects the inner ear with the inside of the skull, is enlarged.

DFNB4 hearing loss presents with hearing loss that does not affect any other parts of the body. Hearing loss may develop before or after a child learns to speak. A small number of affected people also suffer from congenital hyporthyroidism, where not enough thyroid hormone is produced. 

Both disorders are caused by genetic variants in the SLC26A4 gene, which affect the structure and/or function of the pendrin protein.

Take this test to find out if you are a genetic carrier of any pathogenic SLC26A4 variants and are at risk of passing a variant to your children.

The Genetics

Pendered syndrome and DFNB4 hearing loss are caused by genetic variation in the SLC26A gene. This gene gives instructions to produce the pendrin protein. Pendrin is a transporter found on the surface of cells, and is responsible for moving negatively charged molecules (ions) like chloride, iodide and bicarbonate into cells. It plays an essential role in maintaining proper ion levels in both the thyroid and the inner ear. Pathogenic SLC26A4 variants affect the structure and/or the function of pendrin, which disrupts ion transport. This imbalance in ions affects the development of the inner ear, and affects the function of the thyroid gland.

Pendred syndrome and DFNB4 hearing loss are inherited in an autosomal recessive pattern, which means two defective copies of the SLC26A4 gene must be inherited for symptoms to manifest.

Variants Tested

This test detects six variants in the SLC26A4 gene, which occur in 13-61% of carriers of Pendred syndrome and DFNB4 hearing loss in people of European descent, and 35-45% of Japanese carriers with the two disorders. 

  • rs80338848
  • rs111033244
  • rs28939086
  • rs111033199
  • rs121908362
  • rs111033307

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

Signs and Symptoms

Symptoms of Pendred syndrome:

  • Hearing loss
  • Enlarged thyroid gland (goiter)
  • Poor balance
  • Enlarged vestibular aqueduct
  • Cochlear hypoplasia

Symptoms of DFNB4 hearing loss:

  • Nonsyndromic hearing loss
  • Enlarged vestibular aqueduct
  • Congenital hypothyroidism

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.