Craniosynostosis Panel

New York
Approved


Genes

ALPL, ALX4, ASXL1, CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IL11RA, MASP1, MEGF8, MSX2, P4HB, POR, RAB23, RECQL4, SEC24D, SKI, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR35, ZIC1

Conditions

  • Craniosynostosis

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of craniosynostosis
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TA40

CPT Codes*

81175x1; 81403x1; 81404x3; 81405x2

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.