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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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| Patents: |
6,054,313 |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(65), 83904(65), 83909(65), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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: |
7-10 days |
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