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Test Catalog
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Monogenic Diabetes (MODY) Evaluation |
#849 |
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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: |
849 |
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| Profile includes: |
CEL (MODY8) Mutation Analysis, GCK (MODY2) DNA Sequencing Test, HNF4A (MODY1) DNA Sequencing Test, IPF1 (MODY4) DNA Sequencing Test, TCF1 (MODY3) DNA Sequencing Test, TCF2 (MODY5) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes HNF4A, GCK, TCF1, IPF1 and TCF2. |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(43), 83904(43), 83909(43), and 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: |
14-21 days |
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