Endoplasmic Reticulum (ER) Stress Disorders Panel | NGS

Genes SequencedCISD2, EIF2AK3, IER3IP1, INS and WFS1
Test DetailsExtraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of unknown significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 – 4 weeks
Specimen RequirementsPeripheral blood
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood
Minimum Sample Volume2 ml
Storage/Transport ConditionsAmbient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)