Cystic Disease and Nephronophthisis Panel | NGS
| Genes Sequenced | 32 genes sequenced: ACE, AGT, AGTR1, AHI1, BBS10, BICC1, CC2D2A, CEP290, CRB2, DNAJB11, EYA1, GANAB, GLIS2, HNF1B, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, PKD1, PKD2, PKHD1, REN, RPGRIP1L, SIX5, TMEM67, TTC21B, UMOD, USH2A and XPNPEP3 |
| Test Details | DNA extraction, exome capture and sequencing on the Illumina platform. Identified variants are classified using ACMG/AMP and ClinGen guidelines. |
| 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 (NGS) |