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Kabuki Syndrome via the KMT2D Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
15171 KMT2D 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15171KMT2D81479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Kabuki syndrome is a multiple congenital disorder characterized by arched and broad eyebrows, long palpebral fissures with the everted lateral third of the lower eye lids, depressed nasal tip, large protruding earlobes, persistence of fetal fingertip pads, skeletal defects, developmental delay and mental retardation. Other features include congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies hearing loss, and widely spaced teeth and hypodontia. Patients may also have frequent infections, seizures, and feeding problems (Miyake et al. 2013; Adam et al. 2013).


KMT2D–related Kabuki syndrome is inherited in autosomal dominant manner. The KMT2D protein coded by exons 1 to 54 of the KMT2D gene on 12q12-q14 is a histone methyltransferase that methylates the Lys-4 position of histone H3. Mutations in KMT2D account for approximately 2/3 of mutations identified in Kabuki patients (Micale et al. 2014). To date, almost 300 unique pathogenic variants in KMT2D have been documented. They are missense: 16%, nonsense: 33%; splicing: 9%, small del/ins: 41%, and ~1% large deletions and duplications. The majority of mutations occur de novo (Micale et al. 2014; Banka et al. 2013; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

In two cohort studies with 303 and 81 clinically diagnosed Kabuki patients, KMT2D causative variants were found in 43% and 61% of the studied patients (Miyake et al.; Micale et al. 2014).

Testing Strategy

This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the KMT2D gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with Kabuki syndrome.


Official Gene Symbol OMIM ID
KMT2D 602113
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Kabuki Syndrome 1 AD 147920


  • Adam et al. 2019 PubMed ID: 21882399
  • Banka et al. 2013. PubMed ID: 22901312
  • Human Gene Mutation Database (Bio-base).
  • Micale et al. 2014. PubMed ID: 24633898
  • Miyake et al. 2013. PubMed ID: 23913813


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Backbone)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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