| Test code: | 804 |
| Type of disorder: | Diabetes |
| Disease(s) tested for: | MODY3, Maturity-Onset Diabetes of Young (MODY) |
| Genes Included: | HNF1A, |
| Profiles that contain this test: | Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1) Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A) Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B) Monogenic Diabetes (MODY) Two Gene Evaluation (GCK,HNF1A) |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects deletions and mutations in the HNF1A (TCF1) gene Typical Presentation: Non-ketotic hyperglycemia in non-obese individuals of any age Indications for testing: Non-ketotic insulin-sensitive hyperglycemia in individuals of any age; Family history of mutations in TCF1 |
| Methodology: | Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA) |
| Reference Range: | No sequence variation or deletion 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), 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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