Complement-Mediated Renal Disease Panel | NGS
| Genes Sequenced | 13 genes sequenced: ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD; CFHR3-CFHR1 deletion by MLPA |
| 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 | 4 – 6 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 MLPA send out) |