Comprehensive Neuropathies + mtDNA


Test Details
TEST CODE NGS445
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 628
CPT CODE 81460, 81465, 81324, 81325, 81404 x3, 81405 x4, 81406 x3
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Hereditary neuropathies are large group of genetically and phenotypically heterogeneous disorders affecting the peripheral nervous system. The peripheral nervous system is divided into the somatic and autonomic nervous system. The somatic nervous system relays motor and sensory information to and from the central nervous system. The autonomic nervous system, which regulates involuntary bodily functions, for example, heart rate, breathing, and digestion.

Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in feet and hands, or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some affected individuals may have foot deformities such as high arches and hammer toes, thin calf muscles, or scoliosis. The symptoms of hereditary neuropathies may be apparent at birth, or appear in middle life, or late life. Symptoms can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by nerve conduction studies, nerve biopsies, and genetic testing.


Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (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. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
AAAS
AARS
ABAT
ABCB7
ABCC8
ABCD1
ACO2
ACOX1
ACTA1
ACTB
ACVRL1
ACY1
ADAMTS2
ADCK3
ADCY5
ADSL
ADSSL1
AFG3L2
AGXT
AIFM1
AIMP1
ALAD
ALDH18A1
ALDH3A2
ALDH5A1
ALDH6A1
ALG2
ALS2
AMACR
AMN
AMPD1
AMPD2
ANG
ANO5
AP1S2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APTX
AR
ARCN1
ARHGEF10
ARL13B
ARL6IP1
ARNT2
ARSA
ARX
ASAH1
ASNS
ASPA
ATAD3A
ATL1
ATL3
ATP13A2
ATP1A3
ATP2A1
ATP6AP2
ATP7A
ATP7B
ATRX
ATXN1
ATXN2
ATXN3
ATXN7
AUH
B3GALT6
B4GALNT1
BAG3
BCOR
BCS1L
BICD2
BIN1
BMP2
BOLA3
BRPF1
BSCL2
C10ORF2
C12orf65
C19orf12
C9orf72
CACNA1A
CACNA1G
CAPN3
CARS2
CASK
CAV1
CAV3
CCDC88C
CCT5
CECR1
CFL2
CHCHD10
CHMP1A
CHMP2B
CHRNA1
CHRND
CHRNG
CISD2
CIT
CLCN1
CLP1
CLPP
CNBP
CNTNAP1
COASY
COL6A1
COL6A2
COL6A3
COQ2
COQ4
COQ7
COQ9
COX10
COX15
COX6A1
COX7B
CPOX
CPT1C
CREBBP
CRYAB
CSF1R
CSPP1
CTDP1
CTNNB1
CTSD
CTSF
CUBN
CYP27A1
CYP2U1
CYP7B1
D2HGDH
DARS
DARS2
DCTN1
DDC
DDHD1
DDHD2
DDOST
DES
DGUOK
DHCR24
DHFR
DHH
DHTKD1
DKC1
DLAT
DNA2
DNAJB2
DNAJC12
DNAJC3
DNM1L
DNM2
DNMT1
DPAGT1
DPM1
DST
DYNC1H1
EARS2
EGR2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELOVL5
ERBB3
ERBB4
ERCC1
ERCC2
ERCC3
ERCC6
ERCC8
ERLIN2
EXOSC3
FA2H
FAH
FAM126A
FAM134B
FARS2
FBLN5
FBN1
FBXL4
FBXO7
FGD4
FGF14
FHL1
FIG4
FKRP
FKTN
FLNA
FLNC
FLVCR1
FLVCR2
FOLR1
FOXG1
FOXP1
FOXRED1
FTL
FUCA1
FUS
FXN
GAA
GABRB3
GAD1
GALC
GAN
GARS
GBA
GBA2
GBE1
GCDH
GCH1
GCSH
GDAP1
GFAP
GFM1
GIF
GJA1
GJB1
GJC2
GLA
GLB1
GLDC
GLUL
GM2A
GNAO1
GNB4
GOSR2
GPR56
GPT2
GRIA3
GRID2
GRM1
GSN
GSS
HADHA
HADHB
HARS
HARS2
HEXB
HFE
HINT1
HK1
HMBS
HNRNPA1
HNRNPDL
HOXB1
HPRT1
HSD17B4
HSPB1
HSPB3
HSPB8
HSPD1
HTRA1
HTT
IARS2
IBA57
IDS
IER3IP1
IFIH1
IGHMBP2
IKBKAP
INF2
ISPD
ITPA
ITPR1
KARS
KCNA1
KCNC3
KCND3
KCNQ2
KCNT1
KDM5C
KIAA0196
KIDINS220
KIF1A
KIF1B
KIF1C
KIF2A
KIF5A
KY
L1CAM
L2HGDH
LAMA2
LAMB1
LARGE
LARS2
LDB3
LDHA
LIAS
LINS
LIPT1
LITAF
LMNA
LMNB1
LPIN1
LRPPRC
LRSAM1
LYRM7
LYST
MAN2B1
MANBA
MAPT
MARS
MARS2
MAT1A
MATR3
MBOAT7
MCCC1
MCOLN1
MDH2
MECP2
MECR
MED25
MEGF10
MFN2
MFSD2A
MGME1
MICU1
MKS1
MLC1
MLYCD
MME
MOCS1
MOCS2
MPC1
MPV17
MPZ
MRE11A
MRPS22
MTM1
MTMR14
MTMR2
MTPAP
MTTP
MUT
MVK
MYH14
MYL2
MYOT
NAGA
NAGLU
NANS
NARS2
NAXE
NDRG1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEFH
NEFL
NEU1
NF1
NF2
NGF
NGLY1
NIPA1
NLRP12
NLRP3
NOD2
NOP56
NOTCH3
NPC1
NPC2
NRXN1
NSUN2
NT5C2
NTRK1
NUBPL
OCRL
OFD1
OPA1
OPA3
OPTN
ORAI1
OSMR
PAFAH1B1
PAH
PANK2
PARK2
PARK7
PC
PDGFRB
PDHX
PDK3
PDSS1
PDYN
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX16
PEX19
PEX2
PEX5
PEX6
PEX7
PFN1
PGAM2
PGAP1
PGM3
PHGDH
PHKA1
PHYH
PIEZO2
PIGA
PIGN
PIGT
PIGV
PINK1
PLA2G6
PLCB1
PLEKHG5
PLP1
PMP22
PNKP
PNPLA2
PNPLA6
PNPT1
POLG2
POLR3A
POLR3B
POMK
POMT2
PPOX
PPP2R2B
PQBP1
PRDM12
PRICKLE1
PRKCG
PRKRA
PRMT7
PRNP
PRPH
PRPS1
PRX
PSAP
PSEN1
PSMB8
PTRF
PTS
PURA
PYGM
PYROXD1
RAB7A
RAI1
RARS
RARS2
REEP1
REEP2
RFT1
RMND1
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
RRM2B
RTN2
RYR1
SACS
SAMD9L
SAMHD1
SBF1
SBF2
SCARB2
SCN10A
SCN11A
SCN2A
SCN4A
SCN9A
SCO2
SCP2
SDHA
SDHAF1
SDHD
SEPN1
SEPSECS
SEPT9
SETX
SH3TC2
SHANK3
SHROOM4
SIGMAR1
SLC12A3
SLC12A6
SLC16A2
SLC19A3
SLC1A2
SLC1A4
SLC20A2
SLC25A1
SLC25A12
SLC25A19
SLC25A22
SLC25A4
SLC25A46
SLC2A1
SLC30A10
SLC33A1
SLC35A2
SLC39A14
SLC40A1
SLC46A1
SLC52A2
SLC52A3
SLC5A7
SLC6A8
SMAD4
SMN1
SMN2
SMPD1
SNAP25
SNAP29
SOD1
SOX10
SPAST
SPEG
SPG11
SPG20
SPG21
SPG7
SPTAN1
SPTBN2
SPTLC1
SPTLC2
SQSTM1
ST3GAL5
STIM1
STXBP1
SUCLA2
SUCLG1
SUMF1
SURF1
SZT2
TAF1
TARDBP
TBC1D20
TBC1D24
TBCD
TCAP
TCTN2
TDP1
TELO2
TFG
TGM6
TIA1
TIMM8A
TMEM126A
TMEM237
TMEM240
TMEM43
TMTC3
TNFRSF11A
TPI1
TPM2
TPP1
TREM2
TREX1
TRIM2
TRIM32
TRMT5
TRPA1
TRPV4
TSFM
TTBK2
TTC19
TTN
TTR
TUBA1A
TUBB3
TUBB4A
TUBG1
TYMP
TYROBP
UBA1
UBA5
UBE3A
UBQLN2
UCHL1
UQCRQ
VAC14
VAMP1
VAPB
VCP
VLDLR
VPS33A
VPS37A
VPS53
VRK1
WDR45
WDR62
WDR81
WNK1
WWOX
XPA
YARS
ZC4H2
ZEB2
ZFYVE26
ZFYVE27
ZNF335

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