Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

CONGENITAL HYPERINSULINISM EVALUATION SEQUENCING

General Information

Lab Order Codes:

CHIE

Synonyms:

ABCC8 Sequencing; CGK Sequencing; GLUD1 Sequencing; KCNJ11 Sequencing

CPT Codes:

81407 – Molecular Pathology procedure, Level 8
81406 x2 – Molecular Pathology procedure, Level 7
81403 – Molecular Pathology procedure, Level 4

Test Includes:

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.

Logistics

Test Indications:

Severe, persistent hypoglycemia in newborns or infants Family history of Congenital Hyperinsulinism.

Lab Testing Sections:

Anatomic Pathology – Sendouts

Referred to:

Athena Diagnostics (Athena Test: 819)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Monday – Thursday by 15:00 only

Turnaround Time:

7 days

Special Instructions:

Blood samples should be submitted for proband & both parents whenever possible. Collect specimens Monday – Thursday 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.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube
Alternate tube: Yellow-top (ACD) tube

Draw Volume:

10 mL (Minimum: 2 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture.

Special Processing:

Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store and ship at room temperature on MONDAY – THURSDAY. Specimens may be refrigerated overnight. Forward promptly. Specimens are stable for 48 hours.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding regions of genes.

References:

Athena Diagnostics Laboratory October 2013
(800) 394-4493 Fax: (508) 753-5601

Updates:

2/4/2013: CPT update
10/9/2013: CPT update



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