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: Yes
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

Utility: 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 Value: 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 Stability Notes: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Adult Preferred Volume: 8 mL
Adult Minimum Volume: 6 mL
Pediatric Preferred Volume: 2 mL
Pediatric Minimum Volume: 1 mL
Collection Tube: Lavender top (EDTA)
Collection Notes: 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

Storage Conditions: Refrigerate
Shipping Conditions: Ship room temperature, avoid freezing.
Test Turnaround: 5-7 days

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