Associated disorders

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (CdLS) (MedGen UID: 78752). Additionally, the HDAC8 gene has preliminary evidence supporting a correlation with X-linked Wilson-Turner syndrome.

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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 HDAC8 gene encodes a histone deacetylase enzyme that removes chemical groups (acetyl) from lysine residues in the histone N-terminal tails, repressing transcription of the DNA in that region. HDAC8 also deacetylates many non-histone proteins, regulating diverse processes in the cell.

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
HDAC8 NM_018486.2