Casandra
Casandra Test Code QD76745Version 1 (DRAFT)
Performing Lab
Familial Hyperinsulinism
Clinical Use
Order TestUse
The familial hyperinsulinism (FH) test offers molecular detection of two common pathogenic variants in the ABCC8 gene, IVS32‑9G>A (c.3989‑9G>A) and F1387del (c.4160_4162delTCT), which account for approximately 90% of Ashkenazi‑Jewish FH pathogenic variants. FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia (low blood sugar).
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
Other
Biomarkers
ABCC8
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
4 mL
Container
EDTA (lavender‑top) or ACD (yellow‑top) tube
Similar Tests
Other tests from different labs that may be relevant
ABCC8-Related Hyperinsulinism, 3 Variants
ARUP Laboratories
Congenital Hyperinsulinism Genetic Panel
Labcorp
Congenital Hyperinsulinism Panel
Prevention Genetics
Invitae Hypoglycemia Panel
Invitae Corporation
Hypoglycemia Panel
Prevention Genetics
Familial Hypercholesterolemia (FH) Panel
Prevention Genetics
Invitae Monogenic Diabetes Panel
Invitae Corporation
Familial Hypocalciuric Hypercalcemia (FHH) Panel
Prevention Genetics
Suggested Custom Slice — Hyperinsulinism (GeneDx Test #81695)
GeneDx
Invitae Familial Hypercholesterolemia Panel
Invitae Corporation