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  • Test code: 04731
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Kabuki Syndrome Panel

Test description

The Invitae Kabuki Syndrome Panel analyzes two genes that are associated with Kabuki syndrome, a pediatric developmental disorder characterized by distinct dysmorphic facial features, developmental delay, and multiple congenital anomalies, including persistent fetal fingertip pads, postnatal growth deficiency, and abnormalities involving the kidney, heart, eyes, and skeletal, gastrointestinal, and genitourinary systems. These genes were selected based on the available evidence to date.

Genetic testing can provide an accurate diagnosis, which may help guide medical management and surveillance decisions, predict disease progression and outcome, and indicate the recurrence risk.

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Primary panel (2 genes)

Kabuki syndrome is a rare pediatric developmental disorder that is characterized by distinct facial features reminiscent of the facial appearance of Kabuki theater actors. Affected children also exhibit skeletal anomalies, including scoliosis, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Other anomalies include congenital heart defects, cleft lip or cleft palate, seizures, and hearing loss. Abnormalities of the gastrointestinal, genitourinary, ophthalmologic, immunological, and endocrine systems are also observed.

Pathogenic variants in KMT2D and KDM6A account for 70% of individuals with clinical diagnosis of Kabuki syndrome.

KMT2D-related Kabuki syndrome is autosomal dominant. KDM6A-related Kabuki syndrome is X-linked dominant.

KMT2D-related Kabuki syndrome is thought to be fully penetrant. The penetrance of KDM6A-related Kabuki syndrome is unknown.

Prevalence of Kabuki syndrome is estimated at 1 in 32,000 in Japan and 1 in 86,000 in Australia and New Zealand.

This panel may be appropriate for confirmation of a clinical diagnosis or to establish a diagnosis in an individual with suspected Kabuki syndrome.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
KDM6A NM_021140.3
KMT2D NM_003482.3