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GCK (MODY2) DNA Sequencing and Deletion Test
Test Code92345
CPT Codes
81406, 81479<br>Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood
Pediatric volume: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
Instructions
This test requires physician attestation that patient consent has been received
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.
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