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WT1 DNA Sequencing Test
Test Code92922
CPT Codes
81405<br /> Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL
Pediatric (0-3 years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Informed consent is required.
Must arrive at Athena on a weekday.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
Must arrive at Athena on a weekday.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
Setup Schedule
Set up: Varies; Report available: 14-28 days
Reference Range
No sequence variation detected
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.
