ABCC8-Related Hyperinsulinism, 3 Variants

Casandra

Casandra Test Code AR16644Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2013725CPT Code 81401

ABCC8-Related Hyperinsulinism, 3 Variants

Also known as: ABCC8

Clinical Use

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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

This test requires informed consent for genetic testing from New York state patients. It is used for carrier screening or diagnostic testing in individuals of Ashkenazi Jewish descent. Genetic counseling is recommended due to the inheritability of the condition, which follows an autosomal recessive pattern. The test specifically targets three ABCC8 gene variants: p.F1388del (c.4163_4165del), p.V187D (c.560T>A), and c.3992-9G>A.

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.

Test Details

New York Approved