Carrier screening or diagnostic testing for ABCC8-related hyperinsulinism for individuals of Ashkenazi Jewish descent.
Polymerase Chain Reaction/Fluorescence Monitoring
Lavender (EDTA), Pink (K2EDTA), yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
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.
|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|