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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

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