Neuromuscular Disorders Panel

Synonyms

  • LAB11638
  • NEUROMUSCULAR DISORDERS PANEL
  • NMD PANEL

Cerner Name

Neuromuscular Disorders Panel

Clinical Info

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

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2 - 5 mL whole blood

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

TAT: 4 Weeks

Performing Laboratories

GeneDx

CPT

81404 x 5
81405 x 2
81406 x 2
81407
81408 x 2
81161
81336
81239

PDM

1659854

Results
Component Name Base Name Common Name External Name
NEUROMUSCULAR DISORDERS PANEL NEUROMUSDIS NEUROMUSCULAR DISORDERS PANEL Neuromuscular Disorders Panel

Result Interpretation

See Report
 
Includes 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

Forms
Molecular-send outs LAB11638 build edit