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Prenatal Akinesia/Arthrogryposis Panel


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

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG85

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

10 mL Amniotic Fluid

Alternative Specimen

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug 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.