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Prenatal Cornelia de Lange Syndrome (NIPBL)


Genes

NIPBL

Conditions

  • Prenatal Cornelia de Lange Syndrome (CdLS)

Clinical Utility

  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a Cornelia de Lange syndrome
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

738

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

2-3 weeks

Preferred Specimen

20 mL Amniotic Fluid

Alternative Specimen

2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

*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.