Charcot-Marie-Tooth Disease + mtDNA


Test Details
TEST CODE NGS345
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 188
CPT CODE 81460, 81465, 81324, 81325, 81404 x3, 81405 x4, 81406 x3
PRICE $2195
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of progressive disorders characterized by a chronic motor and sensory polyneuropathy. CMT neuropathies are the most common cause of hereditary neuropathy. CMT neuropathies are also known as hereditary motor and sensory neuropathies (HMSN), because they are characterized by predominately motor and sensory symptoms. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. CMT hereditary neuropathy syndrome can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or hammer toes. Affected individuals often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping.

As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision.


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
ABCD1
ACO2
ACOX1
AFG3L2
AIFM1
ALDH3A2
ALDH6A1
ALG2
AMPD2
AP1S2
AP3D1
AP4M1
APTX
ARCN1
ARHGEF10
ARNT2
ARSA
ASNS
ASPA
ATAD3A
ATP13A2
ATP7B
B4GALNT1
BAG3
BRPF1
BSCL2
C10ORF2
C12orf65
C19orf12
CLP1
COQ7
COX6A1
CSF1R
CTDP1
CTSD
CYP2U1
DARS2
DDHD1
DDOST
DGUOK
DHFR
DHTKD1
DNAJB2
DNAJC3
DNM1L
DNM2
DPM1
DYNC1H1
EGR2
ELOVL4
ELOVL5
ERCC3
ERCC6
ERCC8
EXOSC3
FBLN5
FGD4
FGF14
FIG4
FLVCR1
FOLR1
FOXG1
FOXP1
FTL
GAA
GABRB3
GALC
GAN
GARS
GBE1
GDAP1
GIF
GJB1
GJC2
GLUL
GNB4
GPR56
HADHB
HARS
HINT1
HK1
HSD17B4
HSPB1
HSPB8
HTRA1
IARS2
IBA57
IER3IP1
IGHMBP2
INF2
ITPA
KARS
KIDINS220
KIF1A
KIF1B
KIF5A
LITAF
LMNA
LRSAM1
MANBA
MARS
MAT1A
MED25
MFN2
MICU1
MME
MOCS1
MOCS2
MPZ
MRPS22
MTMR2
MTTP
NAGA
NAGLU
NARS2
NDRG1
NEFH
NEFL
OPA1
PC
PDK3
PDYN
PEX10
PEX11B
PEX16
PEX19
PEX2
PEX5
PEX7
PGM3
PHGDH
PIGV
PLA2G6
PLEKHG5
PMP22
PNPLA6
POMK
PRDM12
PRICKLE1
PRMT7
PRPS1
PRX
PSAP
PURA
PYROXD1
RAB7A
RMND1
RNASEH1
SBF1
SBF2
SEPT9
SH3TC2
SLC12A6
SLC16A2
SLC1A4
SLC25A1
SLC25A12
SLC25A19
SLC25A22
SLC25A46
SLC35A2
SLC52A2
SLC6A8
SPG11
SPTAN1
SUCLA2
SUMF1
SURF1
TBC1D24
TDP1
TFG
TMEM126A
TMTC3
TRIM2
TRMT5
TRPV4
TSFM
TTR
TUBB3
TYMP
UBA5
VCP
VPS33A
YARS
ZC4H2
ZNF335

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