Congenital Hyperinsulinism Evaluation

Test Code

901140

CPT Codes
81403, 81406 (x2), 81407<br /> Restricted Client Code

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

10 mL whole blood aliquot collected in an EDTA (lavender-top) tube

Minimum Volume

2 mL

Instructions

Informed consent is required.

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

Ship overnight at room temperature (specimen arrival must be less than 24 hours after collection); ship Monday through Thursday only.

Transport temperature: Room temperature preferred, refrigerated (cold packs) acceptable

Hemolysis may compromise DNA recovery and integrity after 48 hours

Note: Blood samples should be submitted for proband and both parents, whenever possible.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 72 hours
Refrigerated: 72 hours
Frozen: Unacceptable

Methodology
DNA Sequencing • Polymerase Chain Reaction

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Varies; Report available: 7 days

Reference Range

See Laboratory Report

Clinical Significance

Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes ABCC8, KCNJ11, GCK, and GLUD1

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.