Ordering Recommendation

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




Polymerase Chain Reaction/Fluorescence Monitoring


Tue, Fri


5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

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

Specimen Preparation

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

Storage/Transport Temperature


Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.


Ambient: 72 hours; Refrigerated: 1 week; 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)


Hotline History


CPT Codes



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.


ABCC8-Related Hyperinsulinism, 3 Variants