ABCC8-Related Hyperinsulinism, 3 Variants

2013725
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Positive 1
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Additional Technical Information
Ordering Recommendation

Carrier screening or diagnostic testing for ABCC8-related hyperinsulinism for individuals of Ashkenazi Jewish descent.

Mnemonic
ABCC8
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), Pink (K2EDTA), yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background Information for ABCC8-Related Hyperinsulinism, 3 Variants:
Characteristics: ABCC8-related hyperinsulinism is characterized by hypoglycemia varying in severity from mild symptoms to severe neonatal-onset. Infants with the severe neonatal-onset present with hypoglycemia within the first few days of life, which progresses causing seizures, brain damage and death if untreated.
Incidence: 1 in 10,800 in Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause: ABCC8 pathogenic variants.
Variants Tested: p.F1388del (c.4163_4165del), p.V187D (c.560T>A), c.3992-9G>A.
Clinical Sensitivity: 97 percent in Ashkenazi Jewish individuals; unknown in other ethnicities.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
CPT Codes

81401

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Components
Component Test Code* Component Chart Name LOINC
2013726 ABCC-8 Related Hyperinsulinism, Specimen
2013727 ABCC-8 Related Hyperinsulinism, Allele 1
2013728 ABCC-8 Related Hyperinsulinism, Allele 2
2013729 ABCC-8 Related Hyperinsulinism, Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
ABCC8-Related Hyperinsulinism, 3 Variants