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Popliteal Pterygium Syndrome

Popliteal Pterygium syndrome (PPS) is classified by cleft lip, cleft palate and lip pits, as observed in its allelic disorder Van der Woude syndrome. In addition to the orofacial features, 90% of individuals with PPS have a popliteal web present and ~50% of patients have genital abnormalities. Toenail dysplasia, syndactyly of the toes and digits, […]

Popliteal Pterygium syndrome (PPS) is classified by cleft lip, cleft palate and lip pits, as observed in its allelic disorder Van der Woude syndrome. In addition to the orofacial features, 90% of individuals with PPS have a popliteal web present and ~50% of patients have genital abnormalities. Toenail dysplasia, syndactyly of the toes and digits, and bony deformities also may be present.

Tests Available

IRF6 Exon 4 Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
IRF6
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of a genetic basis for cleft lip/palate in a patient/family
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
248
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 749: Cleft palate
  • 749.1: Cleft lip Cheiloschisis Congenital fissure of lip Harelip Labium leporinum
  • 749.2: Cleft palate with cleft lip, Cheilopalatoschisis
  • 750.25: Congenital fistula of lip, Congenital (mucus) lip pits
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REFERENCES

  1. Kondo, S. et al., (Letter) Nature Genet. 32: 285-89, 2002
  2. Peyrard-Janvid, M. et al., Eur J Human Genet. 13: 1261-7, 2005
  3. Kayano, S. et al., J Hum Genet. 48:662-628, 2003

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