Mosaicism Disorders Sequencing Analysis

3-10mm skin biopsy in Cytogenetics Specimen Collection Media; OR

FFPE tissue; OR

3 mL blood/lavender EDTA tube

• Primary specimen for all panels except the inborn Errors of Immunity panel is tissue from the affected area.
  • Specimen collection media must be fully thawed before placing sample in the media tube.
  • Use sterile technique and close all containers tightly. Label all containers with an EPIC/Beaker label or patient name, hospital number, and date collected.
  • Deliver sample to the Core Laboratory within 24 hours.
• Prior approval by WashU is required for blood, buccal, or extracted DNA samples.
• All tests include next-generation sequencing of the coding exons of listed genes to detect single nucleotide variants and small insertions and deletions. Clinicians ordering PIK3CA only or a custom panel will have the option to order a comprehensive panel. A comprehensive order will allow the laboratory to reflex to 75 gene panel at no additional charge. This reflex will only be available for PIK3CA and certain custom orders. Please find complete gene lists at pathologysevices.wustl.edu.
• Contact laboratory genetic counseling at LabGC@unchealth.unc.edu or  984-974-7283 with questions.