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Kabuki Syndrome (KMT2D) Sequencing
2009306
Ordering Recommendation

Confirm diagnosis of Kabuki syndrome.

Mnemonic
KMT2D FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
21-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Kabuki Syndrome (KMT2D) Sequencing
Characteristics:
Distinctive facial appearance, most prominent in early childhood:arched eyebrows with sparse lateral third, long palpebral fissures with eversion of the lower eyelid, long dense eyelashes, blue sclerae, flat nasal tip, thin upper lip and full lower lip, large dysplastic ears. Renal, cardiac, skeletal, ocular, brain and dermatoglyphic abnormalities. Persistent fetal fingertip pads. Variable degree of intellectual disability.
Inheritance:
Autosomal dominant.
Cause:
Pathogenic germline KMT2D gene mutations.
Clinical Sensitivity:
About 70 percent.
Methodology:
Bidirectional sequencing of the entire KMT2D coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Large deletions/duplications, deep intronic mutations, and some gene regulatory region mutations in KMT2D will not be detected. KDM6A mutations or mutations in other yet undiscovered genes associated with Kabuki syndrome will not be detected. Germline or somatic mosaicism will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2009307Kabuki Syndrome (KMT2D) Sequencing Spcm
2009308Kabuki Syndrome (KMT2D) Sequencing Int
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Kabuki Syndrome (MLL2) Sequencing