- Patient’s specimen. Please visit the Specimen Requirement Page for more information.
- Family member specimens, if appropriate depending on test requested.
- Completed test order signed by the qualified ordering healthcare provider and patient/guardian and, for trio/duo testing, relative consent(s)
- Medical records, including prior test results, consult notes, and pedigree/family history.
- Clients are encouraged to provide specific genes/disorders of interest and differential diagnosis.