• 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 PAX6 gene is associated with autosomal dominant Peter’s anamoly (MedGen UID: 91031), autosomal dominant aniridia (MedGen UID: 1941), autosomal dominant keratitis (MedGen UID: 332039) and autosomal dominant optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and autosomal dominant foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).

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Invitae tests that include this gene:

The PAX6 gene encodes the paired-box protein PAX6. PAX6 is transcription factor that is expressed in the developing eye where it controls expression of genes involved in lens differentiation and establishment of neural eye network (PMID: 11698186).

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
PAX6 NM_000280.4; NM_001604.5