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CEL (MODY8) Mutation Analysis
Test Code92780
CPT Codes
81403<br>Limited Access Code
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: 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.
Note: 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
Targeted Sanger Sequencing
Setup Schedule
Set up: As needed; Report available: 14-28 days
Reference Range
No mutation detected
Clinical Significance
Detects targeted mutations
Typical Presentation: Hyperglycemia, fecal elastase deficiency; pancreatic atrophy
Typical Presentation: Hyperglycemia, fecal elastase deficiency; pancreatic atrophy
