| Clinical Significance: | Detects sequence variants in the WT1 gene. Patients with the Denys-Drash syndrome have a number of different sequence variants distributed along the WT1 gene, while sequence variants in the donor splice site of intron 9 in WT1 lead to Frasier syndrome. Both are characterized by male pseudohermaphroditism and progressive glomerulopathy. Nephropathy begins in infancy in the Denys-Drash syndrome, and progresses to end stage renal disease by the age of three years. In Frasier syndrome nephropathy begins as focal segmental glomerulosclerosis in late childhood and progresses to end-stage renal disease by the second or third decade of life. |
| Methodology: |
Sanger Sequencing
|
| Reference Range: | No sequence variation detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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