| Test code: | 718 |
| Type of disorder: | Hereditary Renal Glomerular Disorders |
| Disease(s) tested for: | Nephrotic Syndrome, Focal Segmental Glomerulosclerosis (FSGS) |
| Genes Included: |
PLCE1, |
| Profiles that contain this test: | Early Onset Nephrotic Syndrome Evaluation |
| Clinical Significance: | Detects sequence variants in the PLCE1 gene in patients with an early onset nephrotic syndrome characterized by diffuse mesangial sclerosis histology. |
| 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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