Neuromuscular Disorders Panel

Cost 
$2,000.00
TAT 
8 weeks
CPT Code 
81406
81407
Test Code 
3118
PDF icon Test Information Sheet
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents 
PDF icon General Test Requisition Form
Disorders 
Bethlem Myopathy and Ullrich Muscular Dystrophy
Central Core Disease
Centronuclear myopathy
Charcot-Marie-Tooth disease
Congenital fiber type disproportion
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital myopathy
Congenital Myopathy with Prominent Contractures
Duchenne muscular dystrophy
Emery-Dreifuss Muscular Dystrophy
Hutchinson-Gilford progeria syndrome (HGPS)
Inclusion body myopathy
Laing distal myopathy
Limb-Girdle Muscular Dystrophy
Mandibuloacral dysplasia (MAD)
Multiminicore Disease
Muscular Dystrophy
Myofibrillar myopathy
Nemaline myopathy
Pompe disease
Ullrich congenital muscular dystrophy
Genes 
ACTA1
AGRN
ALG14
ALG2
ANO5
B3GALNT2
B3GNT1
BAG3
BIN1
CAPN3
CAV3
CCDC78
CFL2
CHAT
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHST14
CNTN1
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
CRYAB
DAG1
DES
DMD
DNAJB6
DNM2
DOK7
DPAGT1
DPM1
DPM2
DPM3
DYSF
EMD
FHL1
FKBP14
FKRP
FKTN
FLNC
GAA
GBE1
GFPT1
GMPPB
GNE
HNRNPDL
HRAS
ISPD
ITGA7
KBTBD13
KLHL40
KLHL41
LAMA2
LAMB2
LAMP2
LARGE
LDB3
LIMS2
LMNA
LMOD3
LRP4
MEGF10
MTM1
MUSK
MYF6
MYH7
MYL2
MYOT
NEB
ORAI1
PLEC
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PREPL
PTPLA
PYGM
RAPSN
RYR1
SCN4A
SEPN1
SGCA
SGCB
SGCD
SGCG
SIL1
SNAP25
SPEG
STAC3
STIM1
SYNE1
SYNE2
SYT2
TCAP
TMEM43
TMEM5
TNNT1
TNPO3
TNXB
TPM2
TPM3
TRAPPC11
TRIM32
TTN
VCP
Notes 
Any gene in the Neuromuscular Disorders Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
This assay includes analysis for the recurrent c.930+189C>T deep intronic variant in the COL6A1 gene.