Associated disorders

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 162897).

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Invitae tests that include this gene:

DNA in cells is organized into chromatin to allow for efficient and tightly regulated gene expression. Chromatin consists of DNA wrapped around structural/regulatory proteins called histones. The KMT2D gene encodes a histone methyltransferase, which transfers chemical groups (methyl) to the lysine-4 (K4) residue in histone H3, resulting in transcriptional activation.

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
KMT2D NM_003482.3