Neuromuscular Disorders Panel

New York
Approved

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

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

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

889

CPT Codes*

81404x5, 81405x2, 81406x2, 81407x1, 81408x2, 81161x1, 81336x1, 81329x1

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.

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