Arthrogryposis Panel

New York
Approved

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

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG80

CPT Codes*

81404x2, 81405x3, 81406x4, 81407x1, 81408x2, 81479x1

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.

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