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Test ID: NMPAN    
Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS), Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of a neuromuscular disorder associated with known causal genes

 

Serving as a second-tier test for patients in whom previous targeted gene mutation analyses for specific inherited neuromuscular disorder-related genes were negative

 

Identifying mutations within genes known to be associated with inherited neuromuscular disorders, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes the option of performing 1 of several neuromuscular disease-related panels. Options include the following:

 

Myopathies:

-Myopathy Expanded Panel (141 genes)

-Muscular Dystrophy Panel (77 genes)

-Congenital Myopathy Panel (36 genes)

-Metabolic Myopathy Panel (41 genes)

-Myofibrillar Myopathy Panel (12 genes)

-Distal Myopathy Panel (27 genes)

-Emery-Dreifuss Panel (5 genes)

-Rhabdomyolysis and Myopathy Panel (31 genes)

 

Distal Myopathy + Peripheral Neuropathy:

-Distal Weakness Expanded Panel (217 genes)

(See below for additional peripheral neuropathy testing options available)

 

Motor Neuron Disease:

-Motor Neuron Disease Panel (17 genes)

 

Neuromuscular Junction:

-Congenital Myasthenic Syndromes Panel (25 genes)

 

Hyperexcitable Muscle Disease:

-Skeletal Muscle Channelopathy Panel (6 genes)

 

Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

 

Related Testing:

The following focused hereditary peripheral neuropathy tests are separately available:

-PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, Varies (1 gene)

-NPPAN / Peripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood

--Hereditary Motor Neuropathy Panel (23 genes)

--Hereditary Sensory Neuropathy Panel (18 genes)

--Metabolic or Syndromic Neuropathies (74 genes)

--Motor and Sensory Neuropathy Panel (82 genes)

--Peripheral Neuropathy Expanded Panel (193 genes)

--Spastic Paraplegia Neuropathy Panel (41 genes)

--SEPT9 Gene, Full Gene Analysis (1 gene)

--Custom Gene Panel

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
_G090Motor Neuron Disease PanelNo, (Bill Only)No
_G091Muscular Dystrophy PanelNo, (Bill Only)No
_G092Myofibrillar Myopathy PanelNo, (Bill Only)No
_G093Congenital Myopathy PanelNo, (Bill Only)No
_G094Congenital Myasthenic SyndromesNo, (Bill Only)No
_G095Metabolic Myopathy PanelNo, (Bill Only)No
_G096Emery-Dreifuss PanelNo, (Bill Only)No
_G097Distal Myopathy PanelNo, (Bill Only)No
_G098Skeletal Muscle Channelopathy PanelNo, (Bill Only)No
_G099Myopathy Expanded PanelNo, (Bill Only)No
_G100Distal Weakness Expanded PanelNo, (Bill Only)No
_G101Rhabdomyolysis and Myopathy PanelNo, (Bill Only)No
G145Hereditary Custom Gene Panel Tier 1No, (Bill Only)No
G146Hereditary Custom Gene Panel Tier 2No, (Bill Only)No
G147Hereditary Custom Gene Panel Tier 3No, (Bill Only)No
G148Hereditary Custom Gene Panel Tier 4No, (Bill Only)No
G149Hereditary Custom Gene Panel Tier 5No, (Bill Only)No

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR, Sanger Sequencing/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Neuromuscular Genetic Panels

Aliases Lists additional common names for a test, as an aid in searching

Alpha-B crystalline-mutated distal myopathy
ALS
Amyotrophic Lateral Sclerosis
Anderson-Tawil syndrome
Becker muscular dystrophy
Cap myopathy
Central core myopathy
Centronuclear myopathy
Channelopathy-associated insensitivity to pain
Charcot-Marie-Tooth disease type 1A
Charcot Marie Tooth
CMT1A
CMD
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy
Congenital myasthenic syndrome
Congenital myopathy
Desminopathy
Distal ABD-filaminopathy
Distal anoctaminopathy
Distal myopathy with rimmed vacuoles
Distal myotilinopathy
Distal nebulin myopathy
Distal weakness
Duchenne Muscular Dystrophy
Dystrophinopathies
Dystrophinopathy
EDMD
Emery-Drifuss muscular dystrophy
Hereditary neuralgic amyotrophy
HNA
Hyaline body myopathy
Hyperkalaemic periodic paralysis
Hypokalaemic periodic paralysis
Laing distal myopathy
LGMD
Limb-girdle muscular dystrophy
Markesbery-Griggs
Matrin3 distal myopathy
Metabolic myopathy
Miyoshi myopathy
Motor Neuron Disease
Muscular Dystrophies
Muscular Dystrophy
Myofibrillar Myopathy
Myotonia congenital
Nemaline myopathy
Nondystrophic myotonias
Paramyotonia congenital
Paroxysmal extreme pain disorder
Period paralyses
Period paralysis
PLS
PMA
Primary erythermalgia
Primary lateral sclerosis
Primary Muscular Atrophy
Rhabdomyolysis
Sodium channel myotonia
Tibial muscular dystrophy
Udd myopathy
VCP-mutated distal myopathy
Welander distal myopathy
ZASPopathy
Next Gen Sequencing Test
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Hereditary Panels
Customizable Panels
A la carte
AAAS
AARS
ABCA1
ABCD1
ABHD5
ACAD9
ACADL
ACADM
ACADS
ACADVL
ACTA1
ADCY6
ADGRG6
AGL
AGRN
AIFM1
ALG14
ALG2
ALS2
AMACR
ANG
ANO5
AP1S1
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APOA1
APTX
ARHGEF10
ARSA
ATL1
ATM
ATP7A
B2M
B3GALNT2
B4GALNT1
B4GAT1
BAG3
BCKDHB
BICD2
BIN1
BSCL2
BVES
C12orf65
CACNA1S
CAPN3
CAV3
CAVIN1
CCDC78
CCT5
CFL2
CHAT
CHKB
CHMP2B
CHRNA1
CHRNB1
CHRND
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CLCF1
CLCN1
CNTN1
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COL12A1
COL6A1
COL6A2
COL6A3
COLQ
COQ2
COQ4
COQ6
COQ8A
COQ9
COX10
CPOX
CPT1B
CPT2
CRLF1
CRYAB
CTDP1
CTSA
CYP27A1
CYP2U1
CYP7B1
DAG1
DARS2
DCAF8
DCTN1
DDHD1
DDHD2
DES
DGUOK
DHH
DHTKD1
DMD
DNAJB2
DNAJB6
DNM2
DNMT1
DOK7
DOLK
DPAGT1
DPM1
DPM2
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DST
DYNC1H1
DYSF
EGR2
EMD
ENO3
ERBB3
ERBB4
ERCC6
ERCC8
ERLIN2
ETFA
ETFB
ETFDH
FA2H
FAH
FAM111B
FAM126A
FAM134B
FBLN5
FBXO38
FGD4
FGF14
FHL1
FIG4
FKRP
FKTN
FLNC
FLVCR1
FMR1
FUS
GAA
GALC
GAN
GARS
GBA2
GBE1
GDAP1
GFPT1
GGPS1
GJB1
GJB3
GJC2
GLA
GMPPA
GMPPB
GNB4
GNE
GOSR2
GSN
GYG1
GYS1
HADHA
HADHB
HARS
HINT1
HK1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
HRAS
HSPB1
HSPB3
HSPB8
HSPD1
IGHMBP2
IKBKAP
INF2
ISPD
ITGA7
KARS
KBTBD13
KCNE3
KCNJ18
KCNJ2
KIF1A
KIF1B
KIF5A
KLHL40
KLHL41
KY
L1CAM
LAMA2
LAMP2
LARGE1
LDB3
LDHA
LITAF
LMNA
LPIN1
LRSAM1
LYST
LAMB2
MAF
MARS
MATR3
MED25
MEGF10
MFN2
MMACHC
MPV17
MPZ
MTM1
MTMR2
MTTP
MUSK
MYF6
MYH14
MYH2
MYH7
MYO18B
MYOT
NAGA
NAGLU
NDRG1
NEB
NEFL
NF2
NGF
NHLRC1
NIPA1
NTRK1
OAT
OPA1
OPTN
ORAI1
PANK2
PDHA1
PDK3
PDSS1
PDSS2
PDYN
PEX10
PEX7
PFKM
PFN1
PGAM2
PGK1
PGM1
PHKA1
PHYH
PLA2G6
PLEC
PLEKHG5
PLOD1
PLP1
PMM2
PMP2
PMP22
PNKP
PNPLA2
PNPLA6
POLG
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PPOX
PREPL
PRKAG2
PRNP
PRPS1
PRX
PYGM
RAB7A
RAPSN
RBCK1
REEP1
RRM2B
RTN2
RYR1
SACS
SBDS
SBF1
SBF2
SCN10A
SCN11A
SCN4A
SCN9A
SCO2
SCP2
SELENON
SETX
SGCA
SGCB
SGCD
SGCG
SH3TC2
SIGMAR1
SLC12A6
SLC16A2
SLC22A5
SLC25A19
SLC25A20
SLC25A46
SLC33A1
SLC52A2
SLC5A7
SMCHD1
SNAP25
SNAP29
SOD1
SOX10
SPAST
SPEG
SPG11
SPG20
SPG21
SPG7
SPTLC1
SPTLC2
SQSTM1
SRPK3
STAC3
STIM1
SURF1
SYNE1
SYT2
TARDBP
TCAP
TDP1
TECPR2
TFG
TIA1
TMEM43
TMEM5
TNNT1
TNPO3
TPM2
TPM3
TRAPPC11
TRDN
TRIM2
TRIM32
TRIM54
TRIM63
TRPA1
TRPV4
TTN
TTPA
TTR
TUBB3
TWNK
TYMP
UBQLN2
VAPB
VCP
VMA21
VPS37A
WASHC5
WNK1
XPA
XPC
YARS
ZFYVE26