In order to perform exome or genome testing, providers are required to submit the following information during the ordering process:

• 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.
• Clinic notes within two weeks of sample receipt, which should include:
  • Establishes why exome/genome is the most appropriate test for your patient based on their personal and family history
  • Description of how testing results could potentially impact management
  • Documentation of genetic counseling, if applicable
• If a clinic note is not received within two weeks, cases will be assessed on an individual basis to determine if testing can proceed based on the information received (Xpress tests are excluded from this requirement).
  • Clinical notes are required for the following tests:
    • XomeDx^®
    • XomeDx^® Plus
    • GenomeSeqDx
    • Xpanded^® panels: Xpanded^® Adult Movement, Congenital Heart Defects Xpanded^®, EpiXpanded^®, Autism/ID Xpanded^®, Microcephaly Xpanded^®, Ataxia Xpanded^®, Leukodystrophy Xpanded^®, Congenital Hypotonia Xpanded^®
    • Custom Slice Xpanded^®, Slice Single Gene, Custom Slice (2-150 genes), Epidermolysis Bullosa Slice, Congenital Ichthyosis Slice