Craniosynostosis Panel

Concurrent analysis of multiple genes associated with craniosynostosis (premature ossification of one for more of the cranial sutures of the skull). 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes of craniosynostosis
  • Genetic counseling

Test Details

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

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TA40
CPT Codes*: 81404x1, 81405x2, 81479x3, 81175x1
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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs