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Test Catalog
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Congenital Hyperinsulinism Evaluation |
#819 |
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| Type of Disorder: |
Pancreas, Congenital Hyperinsulinism |
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| Typical Presentation: |
persistent hypoglycemia in newborns, Severe |
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| Indications for Testing: |
Severe, persistent hypoglycemia in newborns or infants Family history of CH |
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| Disease(s) tested for: |
Congenital Hyperinsulinism |
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| Test Details |
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| Test Code: |
819 |
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| Profile includes: |
ABCC8 (CH) DNA Sequencing Test, GCK (CH) DNA Sequencing Test, GLUD1 (CH) DNA Sequencing Test, KCNJ11 (CH) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Blood samples should be submitted for proband and both parents, whenever possible. |
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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 ABCC8, KCNJ11, GCK, and GLUD1 |
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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(65), 83904(65), 83909(1), 83912(1) |
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| Patents: |
6,054,313 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood ? blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena?s genetic counselor) |
| Minimum Volume: |
10ml (pediatric minimum: 2 ml) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood - blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena's genetic counselor) |
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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: |
7-14 days |
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