TCF2 (MODY5) DNA Sequencing and Deletion Test

Test Code

Test Details

Test code: 805
Type of disorder: Diabetes
Disease(s) tested for: MODY5, Maturity-Onset Diabetes of Young (MODY)
Genes Included: HNF1B
Profiles that contain this test:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

Clinical Significance: Detects deletions and mutations in the HNF1B (TCF2) 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 TCF2

Methodology: Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Reference Range: No sequence variation or deletion detected

CPT Coding

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)

Specimen Requirements

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

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 14-28 days

Additional Resources

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