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Dystonia Exome

TAT 
6 weeks
CPT Code 
81443
Test Code 
6109
PDF icon Test Information Sheet
Test Methods 
Exome sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents 
PDF icon Movement Disorders Exome Requisition Form
Office spreadsheet icon List of Genes on the Dystonia Exome Panel
Genes 
AARS
AARS2
ACER3
ACY1
ADAR
ADCY5
AFG3L2
ALS2
ANO3
APTX
ARSA
ARX
ATM
ATP13A2
ATP1A2
ATP1A3
ATP7B
AUH
BCAP31
BCS1L
BSCL2
C19orf12
CBS
CLN3
CLN5
CLN6
CLN8
CLPB
COASY
COL4A1
COQ8A
COX10
COX15
COX20
CP
CSF1R
CTSD
CTSF
CYP27A1
DCAF17
DDC
DLAT
DNAJC12
DNAJC5
DNAJC6
EARS2
ECHS1
FA2H
FBXO7
FOXG1
FOXRED1
FTL
FUCA1
GAMT
GCDH
GCH1
GLB1
GM2A
GNAL
GNAO1
GNB1
GRN
HACE1
HEPACAM
HEXA
HIVEP2
HPCA
HPRT1
HTRA2
IFIH1
KCTD17
KMT2B
L2HGDH
LIPT1
LRPPRC
MCEE
MDH2
MECP2
MECR
MFSD8
MICU1
MLC1
MMAA
MMAB
MMADHC
MUT
NDUFA10
NDUFA12
NDUFA2
NDUFA9
NDUFAF2
NDUFAF5
NDUFAF6
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NKX2-1
NPC1
NPC2
NUP62
PANK2
PARK2
PARK7
PDGFB
PDGFRB
PDHA1
PDHX
PINK1
PLA2G6
PLP1
PNKD
PNKP
POLG
PPT1
PRKN
PRKRA
PRRT2
PSEN1
PTS
QDPR
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SCN1A
SCN8A
SCP2
SDHA
SDHAF1
SERAC1
SGCE
SLC16A2
SLC19A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC6A3
SLC6A8
SPR
SQSTM1
STXBP1
SUCLA2
SUOX
SURF1
SYNJ1
TACO1
TAF1
TBC1D24
TBCD
TH
THAP1
TIMM8A
TOR1A
TOR1AIP1
TPI1
TPK1
TPP1
TREX1
TTC19
TUBB4A
UBA5
UQCRQ
VAC14
VPS13A
VPS35
WARS2
WDR45
XK
Additional Information 
Please see attached excelsheet in document section for a downloadable list of genes analyzed for the Dystonia Exome Panel.

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