Familial Hyperinsulinism DNA Test

Are you a genetic carrier for familial hyperinsulinism? Find out with this DNA Test.

  • Detects three ABCC8 gene variants which cause ABCC8-related familial hyperinsulinism
  • Characterized by frequent episodes of abnormally low blood sugar
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Familial hyperinsulinism is an inherited disorder characterized by frequent episodes of abnormally low blood sugar levels (hyperglycemia). It is caused by elevated insulin, a hormone that controls blood sugar levels.

Insulin controls the removal of sugar (glucose) from our bloodstream into cells, where it is stored and later used as energy. Normally, insulin is only released in response to high sugar levels in the blood. However, in people affected with familial hyperinsulinism, insulin is released constantly, regardless of blood sugar levels. 

Take this test to find out whether you are a genetic carrier for familial hyperinsulinism and are at risk of passing a variant to your children.

The Genetics

Genetic variants in the ABCC8 gene are the most common known cause of familial hyperinsulinism accounting for 40% of affected individuals. The ABCC8 gene provides instructions for the sulfonylurea receptor 1 (SUR1) protein, which is part of a potassium channel that controls the release of insulin. Normally, the closing of this channel triggers the release of insulin from beta cells. In people with pathogenic ABCC8 variants, the structure and/or the function of the transport channel are affected, resulting in the constant release of insulin.

Familial hyperinsulinism is inherited in an autosomal recessive pattern, which means two defective copies of the ABCC8 gene must be inherited in order for the disease to manifest.

Variants Tested

This test detects three genetic variants in the ABCC8 gene that account for approximately 97% of familial hyperinsulinism carriers of Ashkenazi Jewish descent and 41% of Finnish carriers. 

  • rs151344624 deletion (F1388del)
  • rs151344623 T
  • rs137852672 T (V187D)

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

Signs and Symptoms
  • High insulin levels
  • Increased birth weight
  • Episodes of very low blood sugar (hypoglycemia)
  • Low energy
  • Irritability
  • Poor feeding
  • Low muscle tone (hypotonia)

The following symptoms can occur with recurrent episodes of very low blood sugar

  • Breathing difficulties (apnea)
  • Seizures
  • Intellectual disability
  • Vision loss
  • Brain damage
  • Coma

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.