| Test code: | 640 |
| Type of disorder: | Obesity |
| Disease(s) tested for: | Genetic forms of obesity |
| Genes Included: |
MC4R, |
| Profiles that contain this test: | Early-Onset Obesity Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the melanocortin 4 receptor gene (MC4R)
Typical Presentation: Severe obesity before age 5
Indications for testing: Severe obesity with onset at or before 5 years Family history of MC4R-related early onset obesity
|
| 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.
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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