Atypical Diabetes and ER Stress Disorders Gene Panel | NGS

Genes Sequenced54 genes sequenced: ABCC8, AGPAT2, AIRE, APPL1, AKT2, BLK, CACNA1D, CEL, CISD2, CP, EIF2AK3, FOXA2, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KDM6A, KLF11, KMT2D, LMNA, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PAX4, PCBD1, PDX1, PGM1, PLAGL1, PLIN1, PPARG, PTF1A, RFX6, PMM2, SLC2A2, SLC16A1, SLC19A2, STAT3, TRMT10A, UCP2, WFS1 and ZFP57
Test DetailsDNA extraction, exome capture and sequencing on the Illumina platform. Identified variants are classified using ACMG/AMP and ClinGen guidelines. aCGH send out testing for the HNF1B gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 – 4 weeks
Specimen Requirements Peripheral Blood or Buccal Swabs
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2 Buccal Swabs
Minimum Sample Volume1 ml; 1 swab
Storage/Transport ConditionsAmbient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred.
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)81479 x 2(NGS and aCGH send out)