NEXT-GENERATION SEQUENCING (NGS) FOR GENETIC DISEASE PANEL (OUTPATIENT)

Message

Insurance pre-authorization required.
Consent Form required.

Test Code

O1033766

Alias/See Also

Whole Exome Sequencing (WES)

CPT Codes
- Exome: patient only: 81415, - Exome Duo: patient + (1) family member: 81415 + 81416 - Exome Trio: patient + (2) family members: 81415 + 81416 + 81416 - Exome Quad: patient + (3) family members: 81415 + 81416 + 81416 + 81416 - Exome Mitochondrial: Patient: 81460 - Exome Mitochondrial: Family Member: 81403 - Exome Re-Analysis: 81417

Includes

Exome sequencing examining thousands of genes, looking for disease-causing genetic changes.

Preferred Specimen

3 mL whole sterile blood collected in an EDTA (lavender-top) tube.

Minimum Volume

1 mL whole blood collected in an EDTA tube.
Pediatric: 1ml EDTA whole blood

Other Acceptable Specimens

extracted DNA minimum 3 μg (minimum concentration of 35 ng/ μl) from CLIA certified laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS. When DNA concentration is measured using a fluorescence-based method such as Qubit, 3 µg of DNA is adequate. In contrast, spectrophotometric measurements often overestimate DNA concentration, so roughly twice that amount is recommended to ensure sufficient material.

Transport Temperature

Refrigerated: 2-8°C

Specimen Stability

Room temperature: 2 days
Refrigerated: 14 days
Frozen: Unacceptable
Genomic DNA (once sample has been extracted) can be stored at +2-8°C for one week or -20°C for 1 month)

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Heparinized samples are not accepted. Heparin may act as an inhibitor of PCR.
We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.

Methodology
Next Generation Sequencing performed on the Illumina NextSeq 2000.

Setup Schedule

Variable, depending on insurance approval status
Turnaround Time: 75 days (once pre-authorization is approved)

Reference Range

NO Clinical Variants Detected

Clinical Significance

This WVU-XSeq assay is intended for detection of disease-causing genetic variants in individuals with a suspected germline genetic disorder. It may be performed for initial diagnosis, to inform clinical management and therapeutic decision-making, or to provide information relevant to family planning and counseling.

Performing Laboratory
West Virginia University Hospitals Inc

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.