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

SIX3

Alias

HPE2

Associated disorders

The SIX3 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 322517).

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SIX3

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Invitae tests that include this gene:

Invitae Holoprosencephaly Panel 5 genes

Gene function

The SIX3 gene encodes a homeobox transcription factor that can act as either a transcriptional activator or a repressor. It is known to regulate several signaling pathways including Wnt, Nodal, BMP, and Sonic Hedgehog. The SIX3 protein is involved in the development of the forebrain, and the lens and retina of the eye (PMID: 12163408)

References

Carl, M, et al. Six3 inactivation reveals its essential role for the formation and patterning of the vertebrate eye. Development. 2002; 129(17):4057-63. PMID: 12163408

Assay

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.