Neuromuscular Disorders Panel

Concurrent analysis of multiple genes associated with muscular dystrophies, myopathies, spinal muscular atrophies, or myotonias. 

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

ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, GYS1, HNRNPA2B1, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE, LDB3, LMNA, LMOD3, MEGF10, MICU1, MTM1, MYH2, MYH7, MYOT, MYPN, NEB, PABPN1, PHKA1, PLEC, PLEKHG5, PNPLA2, POGLUT1, POMGNT1, POMK, POMT1, POMT2, PYGM, PYROXD1, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SMCHD1, SMN1, SMN2, SQSTM1, STAC3, STIM1, SYNE1, TAZ, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VRK1

Conditions

  • Alpha-Dystroglycanopathies
  • Becker Muscular Dystrophy (BMD)
  • Danon Disease
  • Duchenne Muscular Dystrophy (DMD)
  • Emery-Dreifuss Muscular Dystrophy (EDMD)
  • Hereditary Inclusion Body Myopathy (HIBM)
  • Limb-Girdle Muscular Dystrophy (LGMD)
  • Muscular Dystrophy-Dystroglycanopathy (LGMD)
  • Myofibrillar Myopathy (MFM)
  • Myotonia Congenita
  • Nemaline Myopathy
  • Ullrich CMD/Bethlem Myopathy
  • Walker–Warburg Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 889
CPT Codes*: 81404x5, 81405x2, 81406x2, 81407x1, 81408x2, 81479x3, 81161x1, 81336x1
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