OtoSCOPE Familial Variant Testing
Label Mnemonic: DEAFKNM
Epic code: LAB7320
Downtime form: Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mailout Laboratory
6240-8 RCP
356-8593
Specimen(s):
Whole Blood, Saliva, or Buccal Swabs
Specimen Instructions:
Must include the following information:

  • Patient identifiers (full name, date of birth, sex and medical record number)
  • Pertinent history and clinical findings
  • Date of collection & sample type
  • Ordering physician

Samples may be refrigerated if delivery is delayed.
Collection Medium:
and
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA)
Minimum:
Blood: 3-5cc EDTA Whole Blood- room temp
Saliva: DNA Genotek, ORAGene Discover, OGR-500
Buccal Swabs: DNA Genotek, OraCollect, OCD-100, at least 4 swabs
Delivery Instructions:
Samples accepted Monday-Friday.
Turn Around Time:
6 weeks
Reference Range:
None detected
Interpretive Data:
Sensitivity is greater than 99%.
Comments:
Please print, complete and submit the Hearing Loss Testing Requisition Form from the Molecular Otolaryngology & Renal Research Laboratories, to Specimen Control/Mailouts with the specimen and the Epic Requisition.

If the family member was tested outside of the MORL, please contact the MORL regarding sending samples for familial variant testing. MORL@uiowa.edu
Methodology:
Targeted Sanger sequencing and/or next generation sequencing for detection of copy number variants previously identified in a family member on OtoSCOPE® panel testing.
CPT Code:
81403