Number of Panel Genes: 

Popliteal pterygium syndrome (PPS; MIM 119500) is an autosomal dominant disorder characterized by popliteal pterygium, cleft lip and/or palate, lip pits, and digital and genital abnormalities. It is caused by mutations in the IRF6 gene, which codes for interferon regulatory factor 6. IRF6 mutations can also cause van der Woude syndrome (VWS1; MIM 119300), which shares some clinical features of more

Tests Available

2 Panel Genes: IRF6, RIPK4
Next Generation Sequencing
Test Code: 5412
Deletion / Duplication
Test Code: 5413
NGS/Del Dup Comprehensive
Test Code: 5414

Test Details

Technical Information
Panel Genes: 
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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