Riley-day syndrome
Diagnosis and Testing
Can I be tested for Riley-day syndrome?
If a doctor is suspicious of Riley-Day syndrome in an infant based on symptoms, genetic testing of the IKBKAP gene can be performed. Genetic testing is usually done on a blood or saliva sample. Genetic testing looks at the DNA to see if there are any changes in the IKBKAP gene that might cause Riley-Day syndrome.
There are two main changes or mutations in the IKBKAP gene that cause Riley-Day syndrome. These are called c.2204+6T>C and p.Arg696Pro. Patients are usually tested for these changes. The frequency of other changes is not known.
People can learn more about genetic testing for Riley-Day syndrome by visiting the Genetic Testing Registry or by speaking with a genetic counselor. A genetic counselor can be found by searching the "Find a Counselor" page on the National Society of Genetic Counselors website.
References
- "Riley-Day syndrome." Medline Plus.
- "Familial Dysautonomia." GeneReviews. 12 Dec 2014
More Diagnosis and Testing Content
Is Riley-Day syndrome included in newborn screening?
What are the tests for Riley-Day syndrome?
Who else in my family should I test for Riley-Day syndrome?
Is Riley-Day syndrome included in newborn screening?
Riley-Day syndrome is not included in newborn screening, a blood test given to all baby's born in a hospital. If a baby is suspected to have Riley-Day syndrome, genetic testing can be done right after birth to confirm the diagnosis.
The American College of Obstetrics and Gynecologists recommends that people who are Ashkenazi Jewish can be tested to find out if they are a carrier, or have one change in the IKBKAP gene that might cause Riley-Day syndrome. People who are carriers can have their baby tested before birth or right after birth.
People can talk to a genetic counselor to find out more about newborn testing for Riley-Day syndrome. A genetic counselor can be found by searching the "Find a Counselor" page on the National Society of Genetic Counselors website.
References
- “familial dysautonomia.” Genetics Home Reference.
- "Familial Dysautonomia." GeneReviews. 12 Dec 2014
What are the tests for Riley-Day syndrome?
The main test used to diagnose Riley-Day syndrome is a genetic test of the IKBKAP gene. The diagnosis of Riley-Day syndrome is usually made by a doctor who specializes in inherited diseases called a medical geneticist. A medical geneticist can be found by going to the American College of Medical Genetics "Find a Member" website.
References
- “familial dysautonomia.” Genetics Home Reference.
- "Familial Dysautonomia." GeneReviews. 12 Dec 2014
Who else in my family should I test for Riley-Day syndrome?
Blood relatives of a person with Riley-Day syndrome all have a chance of being a carrier for the condition. Siblings (who do not have symptoms of Riley-Day syndrome) have a 2 in 3, or about 66%, chance of being a carrier for Riley-Day syndrome. Parents of a person with Riley-Day syndrome must be carriers. More distant relatives of the individual have different chances of being carriers: aunts/uncles have a 50% chance, each grandparent has a 25% chance, and cousins have a 25% chance. Families can talk to a genetic counselor to find out who in the family should be tested for Riley-Day syndrome. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
References
- "Familial Dysautonomia." GeneReviews. 12 Dec 2014
- “familial dysautonomia.” Genetics Home Reference.
