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Laboratory Test Directory

KMT2D (MLL2) Gene Sequencing


Name Method Department Units
KMT2D (MLL2) Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

4 mL 4mL-8mL

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not freeze
  • Do not centrifuge

Reasons for Rejection

  • Frozen specimen
  • Wrong collection tube
  • Centrifuged specimen
  • Clotted specimen
  • Delayed or improper handling


Submission of completed Genetic Test Requisition Form containing clinical information is required, and submission of the completed Consent Form is recommended but not required.

This test is a full gene sequencing analysis of the KMT2D gene (previously known as MLL2 gene) that sequences the entire coding regions as well as intronic-exonic junctions of the KMT2D gene.

Pathogenic variants (mutations) in the KMT2D gene causes Kabuki syndrome. Kabuki syndrome is a rare autosomal dominant genetic disorder characterized by characteristic facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia have also been described. A mutation in the KMT2D gene is found in 50%-75% of patients with Kabuki syndrome. In about 9% of patients with Kabuki syndrome, a mutation in KDM6A gene is found. This test does not include sequencing of the KDM6A gene. 

Targeted mutation analysis for this gene is available for family members when familial mutation is known (see Test Code: FMLIS).


Lab Form

CPT Code

  • 81479