Kabuki syndrome (KS)

KS is a multiple congenital anomaly syndrome characterized by distinctive facial features (reminiscent of the actors performing Japanese Kabuki theatre) and mild-moderate intellectual disability. Additionally, patients can have congenital heart defects, urogenital abnormalities, skeletal abnormalities, and post-natal growth retardation.
KS is caused by mutations in the KMT2D gene. GeneDx conducts bi-directional sequence analysis of the entire coding region (exons 1-54) and splice sites of the KMT2D gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation has been identified.

Tests Available

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the MLL2 gene
  • Capillary Sequencing


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
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  2. Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
  3. Ng et al., (2010) Nat Genet 42(9):790-793.
  4. Li et al., (2011) Hum Genet 130(6):715-724.
  5. Lederer et al., (2012) Am J Hum Genet 90:119-124.
  6. Hannibal et al., (2011) Am J Med Genet A 155(7): 1511-1516.