Stickler Syndrome: Deletion/Duplication Panel

Condition Description

Stickler syndrome is a genetically heterogeneous connective tissue disorder that typically results in abnormalities of the ocular, auditory, and skeletal systems. Individuals can have a characteristic flat facial appearance that results from underdeveloped bones in the midface. Pierre Robin sequence, hearing impairment/loss and joint hypermobility are common. Eye manifestations include high myopia, cataract, retinal detachment, and vitreous abnormalities. While the disorder is completely penetrant, much phenotypic variability exists. Stickler syndrome can be inherited in an autosomal dominant (COL2A1, COL11A1 and COL11A2 genes) or autosomal recessive (COL9A1 and COL9A2 genes) manner.

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

Genes (5)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

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

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: 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.
  • Stickler Syndrome: Sequencing Panel
  • Eye Disorders: Comprehensive Sequencing 
  • Eye Disorders: Deletion/Duplication Panel

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