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  • Test code: 04749
  • 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
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Invitae WAGR Syndrome Test

Test description

The Invitae WAGR syndrome test analyzes the WT1 and PAX6 genes, which are commonly deleted in a contiguous gene deletion within chromosomal region 11p13 and associated with Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (WAGR) syndrome.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

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Primary panel (2 genes)

PAX6 WT1

  • WT1-related disorders
    • WAGR syndrome (wilms tumor, aniridia, genitourinary, retardation)
    • isolated Wilms tumor
  • PAX6-related disorders
    • aniridia
    • Gillespie syndrome

WAGR syndrome is caused by a deletion on chromosome 11 inclusive of both WT1 and the PAX6 gene, which is associated with aniridia. Aniridia is characterized by bilateral underdevelopment or absence of iris tissue and is typically the first noticeable sign of WAGR syndrome. In individuals with WAGR syndrome, Wilms tumor presents earlier and is more often bilateral than in isolated Wilms tumor cases. Approximately 50-70% of these individuals develop Wilms tumor. Intellectual disability is common, as are psychiatric or behavioral problems. The most common genitourinary anomalies in males is cryptorchidism. Females may have underdeveloped ovarian tissue and bicornuate uterus, leading to fertility issues.

More than 50% of cases of WAGR syndrome are due to a contiguous gene deletion involving PAX6 and neighboring genes within chromosomal region 11p13, while approximately 14% of cases result from whole gene deletions of PAX6 and WT1.

WAGR syndrome is inherited in an autosomal dominant manner. Most occur as the result of a de novo pathogenic variant.

WAGR syndrome is completely penetrant.

WAGR syndrome occurs in 1 in 500,000 to 1 in one million individuals. Approximately one-third of those diagnosed with aniridia have underlying WAGR and roughly 1 in 143 cases of Wilms tumor are due to WAGR.

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
WT1 NM_024426.4