X&Y Chromosome Variations: Tests and Diagnosis

What tests are used to diagnose X&Y chromosome variations?

X&Y chromosome variations are identified by genetic testing, usually in the form of a chromosome analysis (also known as a karyotype). This test gives doctors a photo of all the chromosomes in a child’s body and is typically done using a blood sample.

Newer genetic tests, called chromosomal microarrays, can also identify individuals with X&Y chromosome variations.

Read about our current research and clinical trials.