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Lab Dept:
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Anatomic Pathology
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Test Name:
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CONGENITAL HYPERINSULINISM EVALUATION SEQUENCING
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General Information
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Lab Order Codes:
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CHIE
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Synonyms:
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ABCC8 Sequencing; CGK Sequencing; GLUD1 Sequencing; KCNJ11 Sequencing
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CPT Codes:
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81407 – Molecular Pathology procedure, Level 8
81406 – Molecular Pathology procedure, Level 7
81404 x2 – Molecular Pathology procedure, Level 5
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Test Includes:
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ABCC8 (CH) DNA Sequencing, GCK (CH) DNA Sequencing, GLUD1 (CH) DNA Sequencing, KCNJ11 (CH) DNA Sequencing. Detects mutations including point mutations, deletions, insertions, and rearrangements.
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Logistics
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Test Indications:
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Severe, persistent hypoglycemia in newborns or infants Family history of Congenital Hyperinsulinism.
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Lab Testing Sections:
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Anatomic Pathology – Sendouts
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Referred to:
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Athena Diagnostics (Test #819)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Wednesday by 15:00 only
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Turnaround Time:
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2 - 8 weeks
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Special Instructions:
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Blood samples should be submitted for proband & both parents whenever possible. Collect specimens Monday – Wednesday by 15:00 ONLY.
Please note if the patient is symptomatic or asymptomatic. If the patient is asymptomatic, complete and submit “Medical Practitioner's Authorization form” with the specimen.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
Alternate tube: Yellow-top (ACD) tube
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Draw Volume:
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10 mL (Minimum: 2 mL) blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture.
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store and ship at room temperature on MONDAY – WEDNESDAY only to Mayo. Forward promptly. Specimens are stable for 72 hours.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes.
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References:
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Athena Diagnostics Laboratory April 2010
(800) 394-4493 Fax: (508) 753-5601
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Updates:
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2/4/2013: CPT update
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