Prenatal Akinesia/Arthrogryposis Panel

Test Overview

Clinical Utility

  • Prenatal diagnosis based on ultrasound findings suggestive of arthrogryposis/fetal akinesia

Test Details

Genes

ACTA1, CHRNA1, CHRND, CHRNE, CHRNG, CNTN1, CNTNAP1, DOK7, ECEL1, FKRP, GBE1, GLE1, KLHL40, LMOD3, MAGEL2, MUSK, MYBPC1, MYH3, PIEZO2, PLEC, RAPSN, RIPK4, TNNI2, TNNT3, TPM2, ZC4H2, ZMPSTE24

Conditions

  • Arthrogryposis multiplex congenita
  • Congenital Contractural Arachnodactyly
  • Congenital Myasthenia Syndrome
  • Distal Arthrogryposis
  • Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome
  • Lethal Congenital Contracture Syndrome
  • Lethal Multiple Pterygium Syndrome
  • Nemaline Myopathy
  • Restrictive Dermopathy
  • Wieacker-Wolff Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TG85
CPT Codes*: 81404x1, 81479x3
ABN Required: No
Turnaround Time**: 3 weeks
Preferred Specimen: 30 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 30 mg CVS | 5 µg DNA Concentration | POC or other fetal tissue
Minimum Specimen:

20 mL Amniotic Fluid | 20 mg CVS  

Samples below the minimum amounts may be accepted, please contact [email protected] in advance to review. 

*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. Note that if the submitted specimen requires cell culturing, this will delay the start of testing.

Resources

Test Documents

Billing

Targeted Variant Testing

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