Dystonia Panel

Concurrent analysis of multiple genes associated with dystonia, characterized by patterned or twisting movements and posture. 

NY Approved

Test Overview

Clinical Utility

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

Test Details

Genes

ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, BCAP31, C19orf12, CACNA1A, CACNA1B, COASY, CP, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, ECHS1, FA2H, FITM2, FTL, FUCA1, GCDH, GCH1, GLRA1, GNAL, GNAO1, HEXA, HPCA, HPRT1, KCNJ6, KCNMA1, KCTD17, KMT2B, MARS2, MCOLN1, MECR, MRE11, NKX2-1, NPC1, NPC2, NUBPL, PANK2, PDGFB, PDGFRB, PLA2G6, PNKD, PNKP, POLR3B, PRKRA, PRRT2, PTS, SCP2, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SPAST, SPR, SQSTM1, SUCLA2, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TUBB4A, VPS13A, WDR45, XPR1

Conditions

  • Combined dystonia
  • Dopa-Responsive Dystonia
  • Dystonia
  • Dystonia-deafness syndromes
  • Movement Disorder
  • Myoclonus dystonia
  • Neurodegeneration with Brain Iron Accumulation (NBIA)
  • Paroxysmal dyskinesia
  • Primary Familial Brain Calcification (PFBC)
  • Torsion dystonia
  • Tremors
  • Wilson Disease

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: T403
CPT Codes*: 81404x3, 81405x2, 81406x2, 81408x1, 81185x1, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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