Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

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
* For price inquiries please email zebras@genedx.com

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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