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GCK (MODY2) DNA Sequencing and Deletion Test
Test Code92345
CPT Codes
81406, 81479<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong><br>Limited Access Code
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric volume (0-3 years): 2 mL whole blood
Pediatric volume (0-3 years): 2 mL whole blood
Minimum Volume
6 mL • Pediatric: 1 mL
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
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing • Multiplex Ligation-dependent Probe Amplification
Setup Schedule
Set up: As needed; Report available: 14-28 days
Reference Range
No sequence variation or deletion detected
Clinical Significance
Detects deletions and mutations in the GCK 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 GCK

