Nail-patella syndrome (NPS; MIM 161200) is a dominantly inherited disorder characterized by dysplasia of the nails, hypoplastic or absent patellae, characteristic bony projections from the iliac wings, abnormalities of the elbows, and in some instances open angle glaucoma. Nephropathy and neurological or vasomotor symptoms can also be seen.

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Tests Available

By gene: LMX1B
Next Generation Sequencing
Test Code: 1210
Deletion / Duplication
Test Code: 5230
NGS/Del Dup Comprehensive
Test Code: 5231

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
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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