ABCC8-Related Hyperinsulinism, 3 Variants
Also known as: ABCC8
Use
ABCC8-related hyperinsulinism is characterized by hypoglycemia that varies 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, progressing to seizures, brain damage, and death if untreated. The test detects pathogenic ABCC8 variants and is significant for individuals of Ashkenazi Jewish descent due to the higher incidence rate of 1 in 10,800. The clinical sensitivity is 97 percent in Ashkenazi Jewish individuals.
Special Instructions
Not provided.
Limitations
Variants other than the three specifically tested will not be detected. Diagnostic errors may occur due to rare sequence variations. The test's performance has been established by ARUP Laboratories as a Laboratory Developed Test (LDT) with an analytical sensitivity and specificity greater than 99 percent. The test cannot exclude all causes of hyperinsulinism, and its clinical sensitivity outside Ashkenazi Jewish populations is unknown.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
ABCC8
Gene
LOINC Codes
- 31208-2 - Specimen source
- 38918-9 - ABCC8 gene Mut Anl Bld/T
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), Pink (K2EDTA), yellow (ACD Solution A or B).
Storage Instructions
Refrigerated.
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |
Other tests from different labs that may be relevant