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ABCC8-Related Hyperinsulinism, 3 Variants
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Ordering Recommendation
Carrier screening or diagnostic testing for ABCC8-related hyperinsulinism for individuals of Ashkenazi Jewish descent.
Mnemonic
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA), Pink (K2EDTA), yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
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.
Laboratory Developed Test (LDT)
Note
Hotline History
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 |
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