Athena Diagnostics - Testing that Makes a Difference
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Congenital Hyperinsulinism Evaluation #819
Type of Disorder: Pancreas, Congenital Hyperinsulinism
Typical Presentation: persistent hypoglycemia in newborns, Severe
Indications for Testing: Severe, persistent hypoglycemia in newborns or infants
Family history of CH
Disease(s) tested for: Congenital Hyperinsulinism
Test Details
Test Code: 819
Profile includes: ABCC8 (CH) DNA Sequencing Test, GCK (CH) DNA Sequencing Test, GLUD1 (CH) DNA Sequencing Test, KCNJ11 (CH) DNA Sequencing Test
Informed Consent Required: Yes
Medicare ABN Required: Yes
Special Notes: Blood samples should be submitted for proband and both parents, whenever possible.
Technical Information
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes ABCC8, KCNJ11, GCK, and GLUD1
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes
Reference Value: No mutation detected
Patents: 6,054,313
CPT Coding
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.
Stacked CPT Code(s): 83891(1), 83898(65), 83904(65), 83909(65), 83912(1)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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
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)
Storage Conditions: For short periods (until shipped) at 4?C
Shipping Conditions: Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only
Test Turnaround: 7-10 days
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