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Prenatal Limb Abnormalities Panel

New York
Approved


Genes

NIPBL, SALL1, SALL4, TBX5, TP73L (TP63)

Conditions

  • Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome
  • Cornelia de Lange Syndrome
  • Duane-Radial Ray syndrome
  • Ectodermal Dysplasia
  • Ectrodactyly
  • Acro-Renal-Ocular syndrome
  • Holt-Oram syndrome
  • Limb-Mammary Syndrome
  • Townes-Brocks Syndrome

Clinical Utility

  • Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a limb abnormality syndrome
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Distinguish between causes and forms of limb abnormality syndromes
  • Genetic counseling, especially regarding recurrence risk

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

937

CPT Codes*

81405x1, 81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

20 mg CVS

Alternative Specimen

20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 ug DNA Concentration

*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.