| Test code: | 8800 |
| Type of disorder: | Diabetes |
| Disease(s) tested for: | Diabetes |
| Genes Included: | GCK, HNF1A, HNF1B, HNF4A, |
| Tests included: | GCK (MODY2) DNA Sequencing and Deletion Test HNF4A (MODY1) DNA Sequencing and Deletion Test TCF1 (MODY3) DNA Sequencing and Deletion Test TCF2 (MODY5) DNA Sequencing and Deletion Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Permits the sequence analysis of the four genes GCK, HNF1A, HNF1B, and HNF4A that are frequently mutated in MODY |
| Methodology: | Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA) |
| Reference Range: | Accompanies Report |
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(2), 81406(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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