| Test code: | 710 |
| Type of disorder: | Hereditary Renal Glomerular Disorders |
| Disease(s) tested for: | Steroid-resistant nephrotic Syndrome (SRNS), Sporadic Nephrotic Syndrome, Congenital Nephrotic Syndrome of the Finnish Type (CNF) and Focal Segmental Glomerulosclerosis (FSGS |
| Genes Included: | NPHS2, |
| Profiles that contain this test: | Early Onset Nephrotic Syndrome Evaluation Focal and Segmental Glomerulosclerosis (FSGS) Evaluation |
| Clinical Significance: | Detects sequence variants in the NPHS2 gene in patients with nephrotic syndrome. Patients exhibit massive proteinuria, hypoalbuminemia, hyperlipidemia, edema related to a glomerular filtration defect. Typical Presentation: Massive proteinuria, hypoalbuminemia, hyperlipidemia, edema related to a glomerular filtration defect |
| Methodology: | Sanger Sequencing |
| Reference Range: | No mutation 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.
| CPT: | 81405(1) |
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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