Familial dysautonomia (aka Riley-Day syndrome) is a disorder caused by defects in the autonomic nervous system (responsible for controlling involuntary actions) and sensory nervous system (controls activities related to the senses). The nerve cells of affected patients do not develop correctly or survive for the normal period.
Approximately 1 in 31 people of Ashkenazi Jewish heritage carry a copy of a defective IKBKAP variant and are known as carriers.
Take this test to find out whether you are a genetic carrier of an IKBKAP variant and are at risk of passing it to your children.
Familial dysautonomia is caused by variants in the IKBKAP gene. This gene provides instructions for the IKK complex-associated protein (IKAP). IKAP appears to play a role in controlling the levels of other genes involved in cell migration. Patients with familial dysautonomia produce less of the IKAP protein, predominantly in cells of the autonomic and sensory nervous systems. This reduces the normal functions of these cells, leading to the typical symptoms of this disorder.
Familial dysautonomia is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the IKBKAP gene for symptoms to occur.
This test detects a genetic variant of the IKBKAP gene that accounts for approximately 99% of familial dysautonomia-associated variants in Ashkenazi Jewish people.
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Poor growth and muscle tone (hypotonia)
- Feeding and swallowing difficulties
- Blotchy red skin
- Frequent lung infections
- A lack of tears
- An inability to maintain a stable body temperature
- Digestive problems causing frequent vomiting episodes
- Frequent bone fractures due to poor bone quality
- An inability to feel normal pain levels
- Lack the normal senses of heat, pain and taste, so injuries and burns commonly occur without any awareness
- Lung damage from repeated infections
- Reduced kidney function
- Balance and coordination difficulties
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.