• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    C10ORF2 • OPA1 • POLG • POLG2 • RRM2B • SLC25A4
  • CPT Code(s):
    Contact KDL for billing information
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
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

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

Methodology:

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

Shipment Sensitivity Requirements:

References:

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

Additional Info:

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