Diagnosis and Testing
How do I get tested for Sotos syndrome?
If a diagnosis of Sotos syndrome is suspected in an infant or child, a genetics team can perform genetic testing to confirm a diagnosis. Genetic testing scans the NSD1 gene, like a spell check tool, and looks for missing or extra pieces of information and/or spelling mistakes that are cause the gene to not work correctly.
Different types of genetic testing may be performed based on the ethnicity of the child in question. In children whose families are from Japan, it is more common to have a missing piece of information in the NSD1 gene. In children whose families are not from Japan, it is more common to have a spelling mistake or change in the NSD1 gene.
If a physician is unsure which type of overgrowth condition a person has they may recommend testing for a panel of gene that are associated with overgrowth syndromes instead of testing just one gene for Sotos syndrome.
More Diagnosis and Testing Content
Is there newborn testing for Sotos syndrome?
Sotos syndrome is not tested for at birth unless there is a specific concern based on a baby's features. This includes overgrowth, large head size, muscle weakness, and abnormal appearing facial features.
Is there more than one test for Sotos syndrome ?
If a baby is suspected to have Sotos syndrome testing can be performed in two different ways. Specific testing for the NSD1 gene can be performed if Sotos syndrome is highly suspected. If a specific diagnosis is unclear your physician may recommend a panel of genes that are associated with conditions similar to Sotos syndrome.
Does it matter if you test blood vs. saliva vs biopsy for Sotos syndrome ?
Testing for Sotos syndrome is usually performed through a blood test, but may also be available on a saliva sample. Once a gene change is found, then testing could be done in family members through saliva or blood.
Who else in my family should I test for Sotos syndrome?
Sotos syndrome is sporadic or not inherited in about 95% of individuals. This means that even if a child has Sotos syndrome there is a low risk for other family members to have a child with Sotos syndrome. However, once a child has been diagnosed with Sotos syndrome it is important for parents to get tested to confirm that it is not inherited.
If one parent has a rearrangement of their chromosomes or has Sotos syndrome, it is recommended to test other family members to learn about the risk to have another child in the family with Sotos syndrome.