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CEL (MODY8) Mutation Analysis
Test Code92780
CPT Codes
81403<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.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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