Patients with Kabuki syndrome have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, fingertip pads, and renal/urinary tract anomalies.

Mutations of the MLL2 (mixed lineage leukemia 2) gene were reported in 35/53 (66%) patients with KMS. We are now offering full gene sequencing of all 54 coding exons of MLL2.

We are excited to bring these and other new tests to your patients and families. Let us know if there are other tests that you would like to see offered. Please refer to our website or contact us for more information.