Optic Atrophy: Deletion/Duplication Panel

Condition Description

Optic atrophy is characterized by visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density. Optic atrophy may be observed in both a syndromic and nonsyndromic context. Please note, if Leber hereditary optic neuropathy (LHON) is suspected, please order LHON mitochondrial pathogenic variant testing.

References:  
  • Daiger  et al. (1998) Invest Ophthalmol Vis Sci  39:S295.
  • OMIM
  • GeneReviews

Genes (6)

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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of optic atrophy.
  • Carrier testing in adults with a family history of optic atrophy.

Methodology

Deletion/Duplication: DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.

Detection

Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Please include fundus photographs, electroretinogram (ERG) findings, visual field findings, and visual acuity, if available, for expert review and clinical correlation with test results.
  • Eye Disorder: Comprehensive Sequencing and Deletion/Duplication Panels.
  • Optic Atrophy: Sequencing Panel.

How to Order