Congenital Hyperinsulinism Evaluation

Test Code

Test Details

Test code: 819
Type of disorder: Congenital Hyperinsulinism
Disease(s) tested for: Congenital Hyperinsulinism
Genes Included: ABCC8 (CH), GCK (CH), GLUD1, KCNJ11 (CH)
Tests included:
Informed Consent Required: This test requires physician attestation that patient consent has been received
Special Notes: Whole blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena's genetic counselor)

Technical Information

Clinical Significance: Detects sequence variants (including point sequence variants, deletions, insertions, and rearrangements) in the coding sequences of the ABCC8, KCNJ11, GCK, and GLUD1 genes in patients with congenital Hyperinsulinemic hypoglycemia (CHI). Patients exhibit severe, persistent hypoglycemia in newborns or infants; family history of CHI.
Methodology: Sanger Sequencing
Reference Range: No mutation detected

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.

CPT: 81403(1), 81406(2), 81407(1)

Specimen Requirements

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 5-7 days

Additional Resources

Letters of Medical Necessity

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