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KDM6A Gene Deletion/Duplication Analysis (Kabuki Syndrome)
This advanced genetic test detects structural variants in the KDM6A gene associated with Kabuki syndrome type 2, enabling precise diagnosis and better clinical management for affected individuals and families.
A specialized laboratory test using advanced molecular techniques to detect deletions or duplications in the KDM6A gene. It is essential for diagnosing Kabuki syndrome type 2 and assessing inheritance patterns.
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