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It's not as intimidating as you might think. Although, to be sure, you will have to submit to a vampire. The things we have to do...

Do you suspect you or a loved one has KBG Syndrome?  You've read through the signs and symptoms and you believe that KBG is something that should be ruled out or at least, looked into? Talk to your Doctor about ordering a test to confirm KBG.

You can download our informational brochure and take it to your kind and loving Doctor to order one of 13 tests that will identify an ANKRD11 mutation.

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Tests that can be used to confirm KBG

Test Name: Cornelia de Lange Syndrome PLUS Sequencing panel
Lab: Genetic Services Laboratory University of Chicago - Chicago, Illinois, United States

Test Name: KBG syndrome (KBGS) - Sanger Sequencing
Lab: Connective Tissue Gene Tests - Allentown, Pennsylvania, United States

Test Name: AllNeuro panel (NGS Panel)
Lab: Centogene AG - the Rare Disease Company - Rostock, Mecklenburg-Vorpommern, Germany

Test Name: ANKRD11. Complete sequencing
Lab: Instituto de Medicina Genomica - Paterna, Comunidad Valenciana, Spain

Test Name: ANKRD11 Gene Sequencing
Lab: GeneDx - Gaithersburg, Maryland, United States
 
Test Name: Coffin-Siris Syndrome Sequencing Panel
Lab: Genetic Services Laboratory University of Chicago - Chicago, Illinois, United States

Test Name: ANKRD11
Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics - Temple City, California, United States

Test Name: KBG syndrome (sequence analysis of ANKRD11 gene)
Lab: CGC Genetics Porto - Porto, Portugal

Test Name: Autism NGS Panel
Lab: Fulgent Clinical Diagnostics Lab Fulgent Diagnostics - Temple City, California, United States

Test Name: KBG Syndrome​, ankyrin repeat domain 11 
Lab: Bristol RGC, Westbury-on-Trym Bristol BS10 5NB - United Kingdom

Test Name: Targeted Mutation Analysis (Known Familial Mutation)
Lab: Genetic Services Laboratory University of Chicago - Chicago, Illinois, United States

Test Name: Epilepsy Exome Panel (Proband Only)
Lab: Genetic Services Laboratory University of Chicago - Chicago, Illinois, United States

Test Name: Epilepsy Exome Panel (Trio)
Lab: Genetic Services Laboratory University of Chicago - Chicago, Illinois, United States
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How to get tested for KBG