| Test code: | 767 |
| Type of disorder: | Hereditary Renal Tubular Disorders |
| Disease(s) tested for: | Bartter-Gitelman Syndrome |
| Genes Included: | SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, |
| Tests included: | BSND DNA Sequencing Test CLCNKB DNA Sequencing Test KCNJ1 DNA Sequencing Test SLC12A1 DNA Sequencing Test SLC12A3 DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the SLC12A1, KCNJ1, CLCNKB, BSND, and SLC12A3 genes Typical Presentation: Hypokalemia, hyperaldosteronism, hyperreninemia, metabolic alkalosis, and often one or more of the following: hyperprostaglandinuria, failure to thrive, hypercalciuria or hypocalciuria, premature birth, cramping, weakness, erythema |
| Methodology: | Sanger Sequencing |
| Reference Range: | No mutation detected in the SLC12A1, KCNJ1, CLCNKB, BSND, and SLC12A3 genes |
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: | 81404(1), 81406(1), 81407(2), 81479(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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