Whole Exome Sequencing | NGS
| Test Details | Whole exome sequencing and analysis for the detection of genetic variation underlying suspected monogenic disease. Trio sequencing (patient and comparator parents) is recommended but singleton and other family structures also available. Minimum mean depth of coverage across the target region of 130x achieves sensitive detection of small variation (SNVs and indels) across the coding regions of the genome. ACMG SF 3.2 secondary findings available for sequenced individuals (proband as well as comparators). |
| Methodology | Next-generation sequencing |
| Performed | Monday – Friday |
| Turnaround | 8 weeks |
| Specimen Requirements | Preferred specimen is is 2-5 mL of peripheral blood in a lavender-top EDTA tube. Alternative specimen: 4 buccal swabs (please contact laboratory prior to sending buccal swabs). DNA extracted in a CLIA-certified laboratory (or equivalent) is accepted only with laboratory approval. |
| Sample Collection | Specimen collection kits are available upon request. |
| Minimum Sample Volume | 2 mL (peripheral blood) |
| Storage/Transport Conditions | Ambient/room temperature preferred. However, if delivery/shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery/shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE). |
| Unacceptable Conditions | Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type. |
| CPT Code(s) | 81415 (proband), 81416 (comparator) |