• 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



Associated disorders

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752). Additionally, the HDAC8 gene has limited evidence supporting a correlation with X-linked Wilson-Turner syndrome (PMID: 22889856 ).

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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 (PMID: 26013035).

Assay and technical information




Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
HDAC8 NM_018486.2