Number of Panel Genes: 

Isolated ectopia lentis is a genetically heterogeneous disorder characterized by dislocation of the lenses in any direction. Inheritance may be autosomal dominant or autosomal recessive. Autosomal dominant cases are caused by mutations in the FBN1 gene (MIM 129600). Mutations in the ADAMTSL4 gene cause autosomal recessive ectopia lentis (MIM 225100).

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Tests Available

2 Panel Genes: ADAMTSL4, FBN1
Next Generation Sequencing
Test Code: 5163
Deletion / Duplication
Test Code: 5164
NGS/Del Dup Comprehensive
Test Code: 5165

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Eye Disorders
CPT Codes: 
81408 x 1
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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