• Test Code:
    2265
  • Department:
  • Test Synonyms:
    C10ORF2OPA1POLGPOLG2RRM2BSLC25A4
  • CPT Code(s):
    8140481405814068140781479
Background:

Progressive external ophthalmoplegia is a rare hereditary condition affecting eye muscles. Initial onset of this condition shows eyelid drooping and progressive loss of muscle movement within the eye. Affected individuals may have to use head movements to change visual direction. Furthermore, this condition may have general muscle weakness, ataxia and/or hearing loss. This condition shows an autosomal dominant or autosomal recessive pattern.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 6 associated genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Progressive External Ophthalmoplegia Panel (6 genes): C10ORF2, OPA1, POLG, POLG2, RRM2B, SLC25A4

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

8 weeks

Turn Around Time:

Weekly

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Genetics Home Reference: Progressive External Ophthalmoplegia
    https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia 

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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