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IRF6 Exon 4 Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

IRF6

Disorders:

• Popliteal Pterygium Syndrome

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

List Price:

$350.00

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

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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