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. 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.
Laboratory Developed Test (LDT)
Note
Hotline History
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 |