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 cataracts.read more

Tests Available

By gene: NDP
Sanger Sequencing
$570
Test Code: 1417
Deletion / Duplication
$680
Test Code: 1418
Sanger/Del Dup Comprehensive
$1,150
Test Code: 1593

Test Details

Technical Information
Genes: 
NDP
Disease Groups: 
Eye Disorders
MIM: 
310600
Billing
Price: 
$570
CPT Codes: 
81404 x 1
Ordering
SKU:
1417
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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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