• 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 SOX9 gene is associated with autosomal dominant campomelic dysplasia (MedGen UID: 354620).

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Order this gene as a single gene test.

SOX9: Deletion/duplication analysis covers the promoter region.

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Invitae tests that include this gene:

An estimated 95% of autosomal dominant campomelic dysplasia is caused by pathogenic variants identified in the SOX9 gene.

The SOX9 gene encodes a transcription factor essential throughout the embryo for proper cell differentiation into adult tissues and organs and for maintenance and renewal of adult tissues.

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
SOX9* NM_000346.3

*SOX9: Deletion/duplication analysis covers the promoter region.