Andersen-Tawil syndrome

Is genetic testing available for Andersen-Tawil syndrome?

Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated on 05-01-20

How is Andersen-Tawil syndrome diagnosed?

The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either:

1. Two of the following three criteria:

  • Periodic paralysis
  • Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG)
  • Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following:
    • Low-set ears
    • Widely spaced eyes
    • Small lower jaw (mandible)
    • Fifth-digit clinodactyly (curved pinky finger)
    • Syndactyly


2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria.

The presence of a mutation in the _KCNJ2 _gene confirms the diagnosis of Andersen-Tawil syndrome.

Last updated on 05-01-20

Name: Sudden Arrhythmia Death Syndromes Foundation 4527 S 2300 E, Suite 104
Salt Lake City, UT, 84117-4448 , United States
Phone: 801-272-3022 Url:
Name: Periodic Paralysis Association 155 West 68th Street Apartment 1732
New York, NY, 10023 , United States
Phone: 407-339-9499 Email: Url:
Name: Periodic Paralysis International 2235 B 36th St. SW
Calgary, Alberta, T3E 2Z3, Canada
Phone: +1-403-244-7213 Email: Url:
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: Url:

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