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Test Catalog
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Monogenic Diabetes (MODY) Evaluation |
#850 |
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| Type of Disorder: |
Diabetes |
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| Typical Presentation: |
Non-ketotic hyperglycemia in non-obese individuals of any age |
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| Indications for Testing: |
Non-ketotic insulin-sensitive hyperglycemia in individuals of any age;
Family history of MODY |
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| Disease(s) tested for: |
Maturity-Onset Diabetes of Young (MODY) |
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| Test Details |
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| Test Code: |
850 |
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| Profile includes: |
CEL (MODY8) Mutation Analysis, GCK (MODY2) DNA Sequencing and DeletionTest, HNF4A (MODY1) DNA Sequencing and Deletion Test, IPF1 (MODY4) DNA Sequencing Test, TCF1 (MODY3) DNA Sequencing and Deletion Test, TCF2 (MODY5) DNA Sequencing and Deletion Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
This is a reflexive test. Tests will be run in succession until either a positive result is detected or the profile is completed. Testing is performed in this order: 1. HNF4A, GCK, HNF1A, HNF1B sequencing and deletion; IPF1 sequencing 2. CEL sequencing |
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| Technical Information |
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| Utility: |
Detects deletions in the HNF4A, GCK, HNF1A, HNF1B genes and mutations in the HNF4A, GCK, HNF1A, HNF1B, IPF1, and CEL genes |
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| Methodology: |
DNA sequencing, Multiplex Ligation-dependent Probe Amplification |
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| Reference Value: |
No sequence variation or deletion detected |
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| CPT Code(s): |
Phase 1: 83891(1), 83896(42), 83898(42), 83900(1), 83901(34), 83904(42), 83909(43), 83914(42), 83912(1)
Phase 2: 83891(1), 83896(42), 83898(43), 83900(1), 83901(34), 83904(43), 83909(44), 83914(42), 83912(1) |
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| Patents: |
6,187,533, 5,541,060, 6,274,310 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml (pediatric minimum: 2mL) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4?C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
2 - 8 weeks |
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