Kabuki syndrome

Diagnosis and Testing

How do I get tested for Kabuki syndrome?

A diagnosis of Kabuki syndrome (KS) is based on clinical findings. The type of doctor that usually diagnoses KS is a called a medical geneticist. The doctor will look at a patient’s symptoms and medical history to determine if KS is likely. If KS is suspected, a genetic test can be done. Genetic testing is usually done on a blood sample, but it may be done on saliva. Genetic testing looks at the gene that cases KS. Genes provide the instructions that tell the body how to grow and develop. Genetic testing acts like a spell check tool and looks for missing or extra pieces of information or spelling mistakes. These errors stop the gene from working correctly and the body does not develop as it normally does. There are two genes that can cause KS when they are mutated. They are called KMT2D and KDM6A. An error in these genes, or mutation, is not found in every patient. Some patients have Kabuki syndrome, but the gene mutation cannot be found. This happens about 30% of the time. Therefore a normal result on the genetic test does not mean that a patient does not have KS. A geneticist or a genetic counselor can order genetic testing and help you to understand the results. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Show More Content Like This

More Diagnosis and Testing Content

Is there newborn screening for Kabuki syndrome?

Is there more than one test for Kabuki syndrome?

Who else in my family should I test for Kabuki syndrome?

Does it matter if you test blood vs. saliva vs. biopsy to diagnose Kabuki syndrome?

Is there newborn screening for Kabuki syndrome?

No, Kabuki syndrome is not included on any newborn screening panels. A medical geneticist or genetic counselor can help arrange testing for Kabuki syndrome if a baby shows symptoms. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Is there more than one test for Kabuki syndrome?

A diagnosis of Kabuki syndrome (KS) is based on clinical findings. The type of doctor that usually diagnoses KS is a called a medical geneticist. The doctor will look at a patient’s symptoms and medical history to determine if KS is likely. If KS is suspected, a genetic test can be done. Genetic testing is usually done on a blood sample, but it may be done on saliva. Genetic testing looks at the gene that cases KS. Genes provide the instructions that tell the body how to grow and develop. Genetic testing acts like a spell check tool and looks for missing or extra pieces of information or spelling mistakes. These errors stop the gene from working correctly and the body does not develop as it normally does. An error in the gene, or mutation, is not found in every patient. Some patients have Kabuki syndrome, but the gene mutation cannot be found. This happens about 30% of the time. Therefore a normal result on the genetic test does not mean that a patient does not have KS. A geneticist or a genetic counselor can order genetic testing and help you to understand the results. A physical exam and genetic testing are the only ways to diagnose Kabuki syndrome. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Who else in my family should I test for Kabuki syndrome?

If a child is diagnosed with Kabuki syndrome, it is recommended that both parents get tested. There is a small chance that one parent may have Kabuki syndrome. This is rare, but testing is needed to confirm. If a parent is also diagnosed, then their other family members can be tested as well. However, KS is usually due to a new change in a child’s genes. This is called a de novo mutation. KS is usually not inherited. There is a very low chance (less than 1%) that another family member will have a child with Kabuki syndrome. A genetic counselor can help you understand the risks to your family. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

Does it matter if you test blood vs. saliva vs. biopsy to diagnose Kabuki syndrome?

Testing to diagnose Kabuki syndrome is usually performed through a blood test. However, saliva may be used in some cases. A biopsy is not needed to test for KS. A genetic counselor can help to arrange for genetic testing. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me