Comprehensive Muscular Dystrophy/Myopathy + mtDNA


Test Details
TEST CODE NGS330
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 911
CPT CODE 81460, 81465, 81479, 81161, 81405 x6, 81406 x2, 81408 x3
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Congenital myopathies and congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of disorders, characterized by hypotonia and poor reflexes at birth or in the first years of life. They were traditionally classified by clinical phenotypes, histopathology, and creatine kinase levels. Currently molecular diagnosis is used to distinguish the subtypes. Variable age of onset and disease severity is observed between the congenital myopathies and CMDs.
Relevant Diseases
  • Comprehensive Muscular Dystrophy/Myopathy

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: Acceptable specimen types: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. Cell culture media may be requested from MNG; (6) Buccal cells.
Shipping Condition: Shipping instructions: MNG Kits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG Kit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped frozen in an insulated container with 5-7lbs dry ice. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge. (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted). (5) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). Ship priority overnight.

Genes Assessed
43717
AAAS
AARS
AARS2
AASS
ABCA1
ABCA7
ABCC8
ABCD4
ABCG5
ABCG8
ABHD12
ABHD5
ACACA
ACAD9
ACADS
ACADVL
ACD
ACP2
ACTA1
ACVR1
ACY1
ADAT3
ADCK3
ADCK4
ADCY6
ADSSL1
AFG3L2
AGK
AGL
AGRN
AIFM1
AIMP1
AIP
AKT1
ALAD
ALDH18A1
ALDOA
ALG2
ALPL
ALS2
AMER1
AMMECR1
AMPD1
ANO5
ANTXR1
AP1S1
AP2S1
AP3B2
AP3D1
AP5Z1
APOA1
APOA1BP
APOPT1
APTX
AR
ARHGAP31
ARHGDIA
ARSA
ARV1
ASAH1
ASCC1
ASXL1
ASXL2
ATCAY
ATL1
ATP1A3
ATP2A1
ATP2B3
ATP6V1A
ATP6V1B2
ATP6V1E1
ATP7A
B2M
B3GALNT2
B3GAT3
B3GNT1
B4GALT1
BAG3
BANF1
BCAP31
BCL11B
BCS1L
BICD2
BIN1
BMP4
BMPER
BRAT1
BRF1
BSCL2
BTK
BUB1B
BVES
C10ORF2
C11orf73
C11orf83
C12orf65
C19orf12
C2
CACNA1A
CACNA1D
CACNA1S
CAMK2A
CAMK2B
CANT1
CAPN1
CAPN3
CASK
CASQ1
CAV3
CCBE1
CCDC115
CCDC174
CCDC78
CCDC88A
CD27
CD59
CD96
CDK13
CDK5
CENPE
CENPF
CEP104
CEP120
CEP55
CEP57
CFL2
CHAMP1
CHAT
CHCHD10
CHD1
CHD4
CHKB
CHMP2B
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST3
CIC
CIDEC
CIT
CLCN1
CLCNKB
CLDN16
CLPB
CNNM2
CNTN1
COA6
COG2
COL13A1
COL4A1
COL4A2
COL6A1
COL6A2
COL6A3
COL9A3
COLEC11
COLQ
COMP
COQ2
COQ9
COX10
COX14
COX15
COX20
COX6A1
COX6B1
COX8A
CPT1C
CPT2
CRLF1
CRYAB
CSNK2A1
CTC1
CTCF
CTNS
CWF19L1
CYB5R3
CYBA
CYBB
CYP24A1
CYP27B1
CYP2R1
CYP7B1
D2HGDH
DAB1
DAG1
DARS2
DCAF8
DCC
DCHS1
DCPS
DCTN1
DDHD1
DDHD2
DDR2
DDX11
DDX3X
DDX58
DES
DGUOK
DHTKD1
DIAPH1
DMD
DMGDH
DMXL2
DNA2
DNAJB2
DNAJB6
DNAJC12
DNAJC19
DNM2
DOCK6
DOK7
DONSON
DPAGT1
DPH1
DPM1
DPM2
DPM3
DSE
DYNC1H1
DYSF
EARS2
EBF3
EED
EFNB1
EGR2
EIF2AK3
EIF2B2
EIF2B4
ELAC2
ELP2
EMC1
EMD
ENO3
ENTPD1
EP300
EPG5
EPHB4
ERBB4
ERCC6
ERCC6L2
ERF
ERLIN1
ERLIN2
ETFA
ETFB
ETFDH
EVC
EVC2
EXOSC3
EXOSC8
EXT1
F10
F12
F13A1
F2
F5
F7
FAH
FAM111B
FAM126A
FAM134B
FANCI
FAR1
FARS2
FASTKD2
FAT2
FAT4
FBLN5
FBN1
FBXO38
FGA
FGD4
FGF12
FGF23
FGF3
FGF8
FGFR1
FGFR3
FHL1
FIG4
FKBP14
FKRP
FKTN
FLAD1
FLNB
FLNC
FLT4
FLVCR1
FMN2
FOXC2
FOXRED1
FRMD4A
FRRS1L
FSHB
FTO
FXYD2
GAA
GABRB1
GALE
GAN
GARS
GATA2
GATAD2B
GATM
GBA2
GBE1
GCK
GCLC
GDAP1
GFER
GFM1
GFPT1
GHSR
GJB1
GJC2
GK
GLE1
GLRX5
GLUD2
GLYCTK
GMNN
GMPPB
GNA11
GNAS
GNB1
GNB4
GNB5
GNE
GPI
GPR126
GPX4
GRID2
GRIN2D
GTF2E2
GTF2H5
GYG1
GYS1
H19
HACE1
HADHA
HADHB
HARS
HECW2
HERC1
HESX1
HEXB
HIBCH
HINT1
HIST1H1E
HIVEP2
HK1
HLA-DQB1
HLA-DRB1
HMBS
HNMT
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPK
HNRNPU
HOXB1
HPCA
HRAS
HS6ST1
HSD17B4
HSPB1
HSPB3
HSPB8
HSPD1
HSPG2
HTR1A
HYLS1
IARS
ICK
IFIH1
IFT52
IGF1
IGF2
IGHMBP2
INF2
INPPL1
INS
INSR
ISCA2
ISCU
ISPD
ITCH
ITGA3
ITGA7
ITPA
JAM3
JPH1
JPH2
JPH3
KARS
KAT6A
KAT6B
KATNB1
KBTBD13
KCNH1
KCNJ1
KCNJ10
KCNJ11
KCNJ2
KCNJ5
KCNJ6
KCTD17
KDM1A
KIAA0196
KIAA0226
KIAA0556
KIAA0586
KIAA1033
KIAA1279
KIAA2022
KIF11
KIF14
KIF1A
KIF1B
KIF1C
KIF21A
KIF22
KIF5A
KIF5C
KLC2
KLHL41
KMT2A
KMT2C
KRIT1
KY
KYNU
L1CAM
LAGE3
LAMA1
LAMA2
LAMB2
LAMP2
LARGE
LARS
LAS1L
LCK
LDB3
LHX3
LIFR
LIMS2
LIPE
LIPT2
LITAF
LMNA
LMNB1
LMNB2
LMOD3
LMX1B
LONP1
LPIN1
LRP4
LRP5
LRSAM1
LYRM7
LYST
LYZ
LZTR1
MAB21L2
MAFB
MAG
MAGEL2
MAPRE2
MARS
MATR3
MBOAT7
MCCC2
MED25
MEGF10
MFF
MFN2
MGME1
MICU1
MITF
MME
MMP13
MOCOS
MORC2
MPLKIP
MPV17
MPZ
MRPS16
MRPS34
MTAP
MTFMT
MTHFR
MTM1
MTMR14
MTMR2
MTOR
MUSK
MYF6
MYH14
MYH2
MYH3
MYH7
MYO18B
MYO1E
MYO5A
MYOT
MYPN
NACC1
NADK2
NAGA
NALCN
NARS2
NAT8L
NBAS
NCF1
NCF2
NDE1
NDN
NDNL2
NDRG1
NDUFA1
NDUFA11
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFV2
NEB
NEDD4L
NEFH
NEFL
NEK9
NEU1
NF1
NFKB2
NFU1
NIPA1
NKX2-1
NLRC4
NME1
NONO
NPHP1
NPHS1
NPHS2
NSUN2
NUBPL
NUS1
OAT
OGT
OPA1
ORAI1
OSGEP
OTX2
PABPN1
PAM16
PBX1
PCCA
PCCB
PCLO
PCNA
PDCD1
PDE10A
PDE8B
PDGFRA
PDK3
PDSS1
PDSS2
PET100
PEX5
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHKB
PHYH
PIEZO1
PIGG
PIGP
PIGY
PIK3R1
PIK3R5
PKP2
PLA2G6
PLCE1
PLEC
PLEKHG2
PLEKHG5
PLG
PLIN1
PLP1
PMM2
PMP22
PMPCA
PNKP
PNP
PNPLA2
PNPLA6
PNPLA8
PNPT1
POC1A
POGLUT1
POGZ
POLD1
POLG
POLG2
POLR1C
POLR1D
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POU1F1
PPA2
PPP1R15B
PPP2R1A
PPP3CA
PRDM5
PRDM8
PREPL
PRF1
PRKAG3
PRKCH
PRKD1
PRMT7
PRNP
PRODH
PROKR2
PROP1
PRPH
PRPS1
PRSS1
PRX
PSAP
PSAT1
PTEN
PTF1A
PTPN14
PTPRO
PTPRQ
PTRF
PTRH2
PUS1
PUS3
PYCR2
PYGM
PYROXD1
QARS
RAB18
RAB3GAP1
RAB3GAP2
RAB7A
RAC1
RAD51
RAPSN
RASA1
RBBP8
RBCK1
RBM28
RBM8A
RBPJ
RDH11
REEP1
RERE
RET
RIPPLY2
RMND1
RNASEH1
RNASET2
RNF113A
RNF125
RNF168
RNF170
ROBO3
RPIA
RPS23
RRM2B
RSPRY1
RTEL1
RTN2
RYR1
SACS
SALL4
SAMD9
SBF1
SBF2
SC5D
SCN11A
SCN4A
SCO1
SCO2
SCYL1
SDHA
SDHAF1
SDHD
SEPN1
SERPINA6
SERPING1
SETX
SF3B4
SFXN4
SGCA
SGCB
SGCD
SGCE
SGCG
SGPL1
SH3PXD2B
SH3TC2
SIGMAR1
SIK1
SIL1
SIN3A
SKI
SLC12A1
SLC12A3
SLC12A5
SLC12A6
SLC1A2
SLC1A4
SLC22A5
SLC25A1
SLC25A15
SLC25A19
SLC25A26
SLC25A4
SLC26A2
SLC30A9
SLC33A1
SLC34A1
SLC34A3
SLC35A3
SLC37A4
SLC39A8
SLC52A2
SLC52A3
SLC5A7
SLC6A17
SLC6A19
SLC6A9
SLC7A7
SLC9A1
SMARCAL1
SMCHD1
SMG9
SMN1
SMN2
SMPD1
SNAP25
SNIP1
SNRPN
SNX14
SOD1
SON
SOX10
SOX18
SOX2
SOX5
SOX9
SPARC
SPAST
SPATA5
SPECC1L
SPEG
SPG11
SPG20
SPG21
SPG7
SPINK5
SPRTN
SPTBN4
SPTLC1
SPTLC2
SQSTM1
STAC3
STAG1
STAMBP
STAT2
STIM1
STRA6
STUB1
STX11
SUCLA2
SUCLG1
SURF1
SYNE1
SYNE2
SYT2
TACO1
TAF2
TAF6
TANGO2
TARDBP
TAZ
TBCD
TBCE
TBCK
TBK1
TBX3
TCAP
TCN2
TECPR2
TERT
TFG
TGFB1
TGFB3
TGM6
THOC2
TIA1
TIMMDC1
TINF2
TK2
TMCO1
TMEM107
TMEM126B
TMEM165
TMEM199
TMEM43
TMEM5
TNFRSF11B
TNNI2
TNNT1
TNPO3
TNXB
TOR1AIP1
TP53
TP53RK
TPI1
TPM2
TPM3
TRAPPC11
TRDN
TRIM2
TRIM32
TRIO
TRIP4
TRMT10C
TRMT5
TRMU
TRPM6
TRPM7
TRPS1
TRPV4
TSEN15
TSFM
TTC19
TTN
TTR
TUBA4A
TUBB3
TUBGCP6
TUFM
TXN2
TYMP
UBA1
UBE3B
UBR1
UBTF
UNC80
UPB1
USP18
USP8
VAPB
VARS
VAX1
VCP
VDR
VEGFC
VMA21
VPS11
VPS13A
VPS13C
VRK1
VWA3B
WAC
WAS
WDR34
WDR35
WDR73
WISP3
XDH
XK
XPNPEP3
XPR1
XRCC1
XRCC4
XYLT1
XYLT2
YARS
YARS2
YME1L1
ZBTB20
ZBTB24
ZC4H2
ZFYVE26
ZFYVE27
ZIC1
ZNHIT3
ZSWIM6

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