Permanent Neonatal Diabetes Mellitus (PNDM) Panel | NGS
| Genes Sequenced | 29 genes sequenced: ABCC8, CP, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PCBD1, PDX1, PLAGL1, PTF1A, RFX6, SLC2A2, SLC19A2, STAT3, TRMT10A, WFS1 and ZFP57 |
| Test Details | DNA 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. |
| Methodology | Next-generation sequencing |
| Performed | Monday – Friday |
| Turnaround | 3 – 4 weeks |
| Specimen Requirements | Peripheral Blood or Buccal swabs |
| Sample Collection | 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2 Buccal swabs |
| Minimum Sample Volume | 1 ml; 1 swab |
| Storage/Transport Conditions | Ambient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred. |
| Unacceptable Conditions | Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type |
| CPT Code(s) | 81479 x 2 (NGS and aCGH send out) |