Norrie disease (ND; MIM 310600) is a severe, X-linked recessive neurodevelopmental disorder caused by mutations in the NDP gene. It is characterized by early-onset blindness due to bilateral retinal dysplasia. Other eye findings include retinal folds, retinal detachment, retrolental masses commonly referred to as pseudoglioma, phthisical globe, microphtalmia and more

Tests Available

By gene: NDP
Sanger Sequencing
Test Code: 1417
Deletion / Duplication
Test Code: 1418
NGS/Del Dup Comprehensive
Test Code: 1593

Test Details

Technical Information
Disease Groups: 
Eye Disorders
CPT Codes: 
81404 x 1
Turnaround Time: 
Typically 1 to 2 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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