Arthrogryposis Panel

Concurrent analysis of multiple genes associated with arthrogryposis, characterized by multiple non-progressive congenital joint contractures. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk assessment

Test Details

Genes

ACTA1, AGRN, ALG14, ALG2, ALG3, ANTXR2, BICD2, BIN1, CHAT, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTN1, CNTNAP1, COL6A1, COL6A2, COL6A3, COLQ, DHCR24, DNM2, DOK7, DPAGT1, ECEL1, EGR2, ERCC1, ERCC5, ERCC6, EXOSC3, FBN1, FBN2, FKBP10, FKRP, FKTN, FLVCR2, GBA, GBE1, GFPT1, GLE1, GMPPB, IGHMBP2, KAT6B, KLHL40, KLHL41, LMNA, LMOD3, LRP4, MAGEL2, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, NEB, PIEZO2, PIP5K1C, PLOD2, RAPSN, RIPK4, RYR1, SCARF2, SCN4A, SELENON, SKI, SLC35A3, SLC39A13, SLC5A7, SOX10, SYNE1, SYT2, TGFB3, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIP4, TRPV4, TSEN54, TTN, UBA1, VIPAS39, VPS33B, ZC4H2

Conditions

  • Arthrogryposis multiplex congenita
  • Centronuclear Myopathy
  • Congenital Contractural Arachnodactyly
  • Congenital Myasthenia Syndrome
  • Distal Arthrogryposis
  • Fetal Akinesia Deformation Sequence/Pena-Shokeir Syndrome
  • Lethal Congenital Contracture Syndrome
  • Lethal Multiple Pterygium Syndrome
  • Ullrich Congenital Muscular Dystrophy

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TG80
CPT Codes*: 81404x2, 81405x2, 81406x2, 81407x1, 81408x2, 81479x3
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