| Test code: | 749 |
| Type of disorder: | Monogenic Hypertension |
| Disease(s) tested for: | Congenital Adrenal Hyperplasia, Pseudohypoaldosteronism Type 1, Liddle's Syndrome, Apparent Mineralocorticoid Excess (AME), Monogenic Hypertension |
| Genes Included: | SCNN1B, SCNN1G, CYP11B1, HSD11B2, |
| Tests included: | CYP11B1 DNA Sequencing Test HSD11B2 DNA Sequencing Test SCNN1B DNA Sequencing Test SCNN1G DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the SCNN1B, SCNN1G, CYP11B1, and HSD11B2 genes Typical Presentation: Early onset of hypertension in the presence of a strong family history associated with low plasma renin activity (PRA) Indications for testing: Early onset of hypertension, low plasma renin activity (PRA), low aldosterone |
| 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.
| CPT: | 81404(1), 81405(1), 81406(2) |
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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