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 Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81401

Components
Component Test Code* Component Chart Name LOINC
2013726 ABCC-8 Related Hyperinsulinism, Specimen 31208-2
2013727 ABCC-8 Related Hyperinsulinism, Allele 1 38918-9
2013728 ABCC-8 Related Hyperinsulinism, Allele 2 38918-9
2013729 ABCC-8 Related Hyperinsulinism, Interp 50398-7
* 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