Comprehensive Muscular Dystrophy/Myopathy + mtDNA


Test Details
TEST CODE NGS330
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 459
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
AAAS
AARS
AARS2
ABCC8
ABHD5
ACACA
ACAD9
ACADS
ACADVL
ACTA1
ACY1
ADCK3
ADSSL1
AFG3L2
AGK
AGL
AGRN
AIFM1
AIMP1
AIP
ALAD
ALDH18A1
ALDOA
ALG2
ALS2
AMMECR1
AMPD1
ANO5
AP3B2
AP3D1
AP5Z1
APOA1
APOPT1
APTX
AR
ARSA
ASAH1
ASXL2
ATL1
ATP1A3
ATP2A1
ATP7A
B2M
B3GALNT2
B3GNT1
B4GALT1
BAG3
BCL11B
BCS1L
BICD2
BIN1
BSCL2
C10ORF2
C12orf65
C19orf12
C9orf72
CACNA1A
CACNA1S
CAPN3
CASK
CASQ1
CAV3
CCDC78
CCDC88A
CFL2
CHAT
CHCHD10
CHD4
CHKB
CHMP2B
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CIT
CLCN1
CLCNKB
CNBP
CNTN1
COL4A1
COL6A1
COL6A2
COL6A3
COLQ
COQ2
COQ9
COX10
COX14
COX15
COX20
COX6A1
COX6B1
COX8A
CPT1C
CPT2
CRYAB
CTNS
CYP7B1
D2HGDH
DARS2
DCPS
DCTN1
DDHD1
DDHD2
DES
DGUOK
DHTKD1
DMD
DMPK
DNA2
DNAJB2
DNAJB6
DNAJC12
DNAJC19
DNM2
DOK7
DPAGT1
DPM1
DPM2
DPM3
DYNC1H1
DYSF
EARS2
EGR2
EIF2B2
EIF2B4
EMD
ENO3
ERBB4
ERCC6
ERLIN2
ETFA
ETFB
ETFDH
EXOSC3
FAH
FAM126A
FAM134B
FARS2
FASTKD2
FBLN5
FBN1
FGA
FGD4
FGF12
FHL1
FIG4
FKBP14
FKRP
FKTN
FLAD1
FLNC
FLVCR1
FOXRED1
FRRS1L
GAA
GAN
GARS
GATM
GBA2
GBE1
GCK
GDAP1
GFER
GFM1
GFPT1
GJB1
GJC2
GK
GLE1
GMPPB
GNB4
GNB5
GNE
GPI
GRID2
GRIN2D
GTF2H5
GYG1
GYS1
HADHA
HADHB
HARS
HECW2
HEXB
HINT1
HK1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
HOXB1
HRAS
HSD17B4
HSPB1
HSPB3
HSPB8
HSPD1
HSPG2
HTR1A
IARS
IFIH1
IGHMBP2
INF2
INS
ISCU
ISPD
ITGA7
ITPA
JPH2
KARS
KBTBD13
KCNJ1
KCNJ11
KCNJ2
KCNJ5
KIAA0196
KIF1A
KIF1B
KIF1C
KIF21A
KIF5A
KY
L1CAM
LAMA2
LAMP2
LARGE
LDB3
LIPE
LITAF
LMNA
LMNB1
LPIN1
LRSAM1
LYRM7
LYST
LYZ
MARS
MATR3
MBOAT7
MED25
MEGF10
MFN2
MGME1
MICU1
MITF
MME
MOCOS
MPLKIP
MPV17
MPZ
MRPS16
MTFMT
MTHFR
MTM1
MTMR14
MTMR2
MUSK
MYF6
MYH14
MYH2
MYH3
MYH7
MYOT
MYPN
NAGA
NARS2
NAXE
NDRG1
NDUFA1
NDUFA11
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAlsF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFV2
NEB
NEFH
NEFL
NEU1
NF1
NFU1
NIPA1
NPHP1
NSUN2
NUBPL
OPA1
ORAI1
PABPN1
PDK3
PDSS1
PDSS2
PEX5
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHKB
PHYH
PIGY
PKP2
PLA2G6
PLEC
PLEKHG2
PLEKHG5
PLP1
PMM2
PMP22
PNKP
PNPLA2
PNPLA6
PNPT1
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRKAG3
PRMT7
PRNP
PRPH
PRPS1
PRX
PSAP
PTEN
PTRF
PUS1
PUS3
PYGM
PYROXD1
RAB7A
RAPSN
RBCK1
REEP1
RET
RMND1
RNASEH1
RRM2B
RTN2
RYR1
SACS
SBF1
SBF2
SCN11A
SCN4A
SCO1
SCO2
SDHA
SDHAF1
SDHD
SEPN1
SEPT9
SETX
SGCA
SGCB
SGCD
SGCE
SGCG
SH3TC2
SIGMAR1
SIL1
SKI
SLC12A1
SLC12A3
SLC12A6
SLC1A2
SLC1A4
SLC22A5
SLC25A1
SLC25A19
SLC25A4
SLC33A1
SLC37A4
SLC52A2
SLC52A3
SLC5A7
SLC6A9
SMCHD1
SMN1
SMN2
SMPD1
SNAP25
SOD1
SON
SOX10
SOX5
SPAST
SPEG
SPG11
SPG20
SPG21
SPG7
SPTLC1
SPTLC2
SQSTM1
STIM1
SUCLA2
SUCLG1
SURF1
SYNE1
SYNE2
TACO1
TARDBP
TAZ
TBCD
TCAP
TCN2
TFG
TGFB1
TGFB3
TGM6
TIA1
TK2
TMEM165
TMEM43
TMEM5
TNNI2
TNNT1
TNPO3
TNXB
TOR1AIP1
TPI1
TPM2
TPM3
TRIM2
TRIM32
TRMT5
TRMU
TRPV4
TSFM
TTC19
TTN
TTR
TUBB3
TUFM
TYMP
UBA1
VAPB
VCP
VRK1
WDR34
YARS
YARS2
ZC4H2
ZFYVE26
ZFYVE27
ZIC1

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