Test Code: CMT1ML
Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP) - MLPA + NGS
Neurogenetics
Molecular testing for Deletion/duplication variants involving PMP22, and one optional sample provided for testing other CMT/HNPP-associated genes such as MPZ,GJB1, GARS1, and SH3CT2.
Sample Type
Blood, amniotic fluid
Turnaround Time
14 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
83 genes
AARS
ABHD12
AIFM1
ARHGEF10
ATP1A1
ATP7A
BAG3
BSCL2
C1orf194
CNTNAP1
COA7
COX6A1
DCTN1
DCTN2
DGAT2
DHTKD1
DNAJB2
DNM2
DNMT1
DRP2
DYNC1H1
EGR2
FGD4
FIG4
GARS
GBF1
GDAP1
GJB1
GNB4
HARS
HINT1
HK1
HSPB1
HSPB3
HSPB8
IGHMBP2
INF2
JPH1
KARS
KIF1B
KIF5A
LITAF
LMNA
LRSAM1
MARS
MCM3AP
MED25
MFN2
MME
MORC2
MPV17
MPZ
MTMR2
NAGLU
NDRG1
NEFH
NEFL
PDK3
PLEKHG5
PMP22
PRPS1
PRX
PTRH2
RAB7A
REEP1
SACS
SBF1
SBF2
SCO2
SETX
SGPL1
SH3TC2
SIGMAR1
SORD
SPG11
SPTLC1
SPTAN1
TRIM2
TRPV4
VCP
VWA1
WARS
YARS
Methodology
Capture-based target enrichment + Next-Generation Sequencing (NGS). MLPA is used to detects large deletions and duplications, including the common PMP22 duplication (CMT1A) and deletion (HNPP).
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