Macular Dystrophy/Degeneration/Stargardt Disease: Deletion/Duplication Panel

Condition Description

Macular dystrophy is a general term referring to the degeneration (or atrophy) of the macula which can be accompanied by pigmentary changes, flecks, and lipofuscin-like deposits. Macular dystrophies are commonly inherited in an autosomal dominant manner. Examples of conditions in this category include Best vitelliform macular dystrophy, Stargardt disease, Sorsby’s dystrophy, and Doyne’s dystrophy.

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

Genes (15)

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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of macular dystrophy/degeneration or Stargardt disease.
  • Carrier testing in adults with a family history of macular dystrophy/degeneration or Stargardt disease.

Methodology

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

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. 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
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.
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.

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.
  • Macular Dystrophy/Degeneration/Stargardt Disease: Sequencing Panel.

How to Order