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The Butterfly Guild is here to help families affected by Shwachman Diamond Syndrome. Those who are currently going through the diagnoses process and those who already have a diagnoses may find these links helpful.

Seattle Children's Hospital


Genetic Testing

There is a genetic test for Shwachman Diamond Syndrome. The following labs currently perform the genetic test:

Ambry Genetics - http://www.ambrygen.com/

Gene DX - http://www.genedx.com/

Some children may be diagnosed with Shwachman Diamond Syndrome even though the genetic test comes back negative.

Shwachman Diamond Syndrome Registry

We strongly encourage children and adults diagnosed with Shwachman Diamond Syndrome to register with the Shwachman Diamond Registry.  Registration in the Shwachman Diamond Syndrome Registry can help improve scientific research and the efforts to better treatments and find a cure for Shwachman Diamond Syndrome.

Please visit the Shwachman Diamond Syndrome Registry website at http://sdsregistry.org/ for more information.

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