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Athena #804 TCF1 (MODY3) DNA Sequencing and Deletion
MessageHemolysis may compromise DNA recovery after 48 hrs
Test Code
804
CPT Codes
81405(1), 81479(1)
Preferred Specimen
whole Blood
Minimum Volume
10 mL (pediatric minimum: 2 mL)
Instructions
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection)
Transport Container
yellow or lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated For short periods (until shipped) at 4oC
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
DNA sequencing, Multiplex Ligation-dependent Probe Amplification
Setup Schedule
M-Th
Report Available
28 days
Reference Range
No sequence variation or deletion detected
Clinical Significance
"Type of Disorder: Diabetes, Maturity-Onset Diabetes of the Young (MODY)
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 TCF1
Disease(s) tested for: MODY3, Maturity-Onset Diabetes of Young (MODY)
Detects deletions and mutations in the HNF1A 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 TCF1
Disease(s) tested for: MODY3, Maturity-Onset Diabetes of Young (MODY)
Detects deletions and mutations in the HNF1A gene"
