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GeneDx, MLL2 gene
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
583
Alias/See Also
Kabuki syndrome (KS); Kabuki Make-up Syndrome (KMS); Niikawa-Kuroki Syndrome
CPT Codes
81479x1
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.
Transport Temperature
ambient
Methodology
Capillary Sequencing Reflex to Exon Array
Report Available
8-10 weeks
Clinical Significance
Kabuki syndrome (KS) is characterized by a distinct facial appearance, multiple congenital anomalies, and mildmoderate intellectual disability. Affected individuals have facial features reminiscent of the make-up used by actors of traditional Japanese Kabuki theatre and include long palpebral fissures, eversion of the lower lateral eyelids, arched eyebrows with sparse hair in outer lateral half, large malformed ears with hypoplastic helices, and a depressed nasal tip. Other commonly seen features in individuals with KS include high arched/cleft palate, abnormal dentition, and persistence of fetal finger pads and dermatoglyphic abnormalities. Hypotonia and feeding difficulties can be observed during infancy. Individuals with KS have postnatal growth retardation and short stature is frequently observed. Common congenital defects typically involve the heart and/or kidneys. Additionally, individuals with KS can experience recurrent otitis media, immunological defects, seizures, and precocious puberty in affected females. Variable expressivity is observed. Inheritance Pattern: Autosomal dominant inheritance. The majority of identified mutations are de novo, but there are case reports of parent to child transmission.
