Alport Syndrome Panel | NGS
| Genes Sequenced | 3 genes sequenced: COL4A3, COL4A4, COL4A5 |
| 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 COL4A5 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) | 81407 x 1 (NGS) and 81479 x 1 (aCGH send out) |