Movement disorders comprehensive panel

Movement disorders comprehensive panel

[123 genes]

TOURNAROUND TIME: 6 WEEKS

ADAR ADCY5 ANO3 APTX ARSA ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP7B
BCAP31 C19orf12 CACNA1A CACNA1B CACNB4 CIZ1 CLN3 CLN5 CLN6 CLN8
COASY COL6A3 CP CTSD CTSF CYP27A1 DCAF17 DCTN1 DLAT DNAJC5
DNAJC6 FA2H FBXO7 FOLR1 FTL GALC GBA GCDH GCH1 GLB1
GLRA1 GLRB GM2A GNAL GRN HEXA HEXB HPCA HPRT1 IFIH1
KCNA1 KCNMA1 KCNQ2 KCTD17 KIF1C KMT2B L2HGDH LRRK2 MAPT MECR
MFSD8 NKX2-1 NPC1 NPC2 NUP62 PANK2 PRKN (PARK2) PARK7 (DJ1) PDE10A PDE8B
PDGFB PDGFRB PDHA1 PINK1 PLA2G6 PLP1 PNKD POLG PPT1 PRKRA
PRNP PRRT2 PTS QDPR RNASEH2A RNASEH2B RNASEH2C RNF216 SAMHD1 SCN1A
SCN9A SGCE SLC19A3 SLC1A3 SLC20A2 SLC25A19 SLC2A1 SLC30A10 SLC39A14 SLC6A3
SLC6A5 SMPD1 SNCA SPG11 SPR SQSTM1 SYNJ1 TENM4 TH THAP1
TIMM8A TOR1A TPK1 TPP1 TREX1 TUBB4A VAC14 VPS13A VPS35 WDR45
XK XPR1 ZFYVE26
ADAR ADCY5 ANO3 APTX
ARSA ATP13A2 ATP1A2 ATP1A3
ATP6AP2 ATP7B BCAP31 C19orf12
CACNA1A CACNA1B CACNB4 CIZ1
CLN3 CLN5 CLN6 CLN8
COASY COL6A3 CP CTSD
CTSF CYP27A1 DCAF17 DCTN1
DLAT DNAJC5 DNAJC6 FA2H
FBXO7 FOLR1 FTL GALC
GBA GCDH GCH1 GLB1
GLRA1 GLRB GM2A GNAL
GRN HEXA HEXB HPCA
HPRT1 IFIH1 KCNA1 KCNMA1
KCNQ2 KCTD17 KIF1C KMT2B
L2HGDH LRRK2 MAPT MECR
MFSD8 NKX2-1 NPC1 NPC2
NUP62 PANK2 PRKN (PARK2) PARK7 (DJ1)
PDE10A PDE8B PDGFB PDGFRB
PDHA1 PINK1 PLA2G6 PLP1
PNKD POLG PPT1 PRKRA
PRNP PRRT2 PTS QDPR
RNASEH2A RNASEH2B RNASEH2C RNF216
SAMHD1 SCN1A SCN9A SGCE
SLC19A3 SLC1A3 SLC20A2 SLC25A19
SLC2A1 SLC30A10 SLC39A14 SLC6A3
SLC6A5 SMPD1 SNCA SPG11
SPR SQSTM1 SYNJ1 TENM4
TH THAP1 TIMM8A TOR1A
TPK1 TPP1 TREX1 TUBB4A
VAC14 VPS13A VPS35 WDR45
XK XPR1 ZFYVE26
General diagnostic approach for all types of movement disorders considered for study, regardless of age.
In addition to encompassing all the genes present in the different specific panels, some other genes belonging to rarer clinical pictures and with more complex phenotypes have been included. Among the ones covered by this panel, it is worth highlighting:
RELATED PHENOTYPES
Familial dyskinesia and facial myokymia ADCY5
Deafness, dystonia, and cerebral hypomyelination BCAP31
Neurodegenerative clinical condition with ataxia and oculomotor disorders KIF1C, APTX, SQSTM1
Pelizaeus-Merzbacher disease PLP1
Mitochondrial ataxic syndrome POLG
Complex spastic paraplegia SPG11 and ZFYVE26
Hereditary essential tremor TENM4
Mohr-Tranebjaerg syndrome (deafness-dystonia) TIMM8A

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información