Ataxia (gene panel) | Belgian Genetic Tests database

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Genetic test Export to PDF
Full name:	Ataxia (gene panel)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA, DNA
Method category:	Sequence analysis: entire coding region
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Menselijke Erfelijkheid - KUL
RIZIV code:	565493-565504
Turnaround time (maximum):	4 - 6 months
Document(s):	Request form (20210603) - KUL.pdf626.4 KB Ataxie_genpanel_aanvraagformulier.pdf238.43 KB
Created:	18 Dec 2020 - 13:16
Changed:	06 Oct 2021 - 11:22
URL:	https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/15314

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Ataxia (141 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
BEAN1	85.90	NM_001178020.2
KCNC3	88.90	NM_004977.2
SYT14	92.90	NM_001146261.2
PTF1A	94.90	NM_178161.2
ATXN10	95.40	NM_013236.3
ATXN2	96.20	NM_002973.3
FXN	96.40	NM_000144.4
ATXN3	97.20	NM_004993.5
TTC19	98.00	NM_017775.3
ATXN7	98.00	NM_000333.3
ABHD12	98.00	NM_001042472.2
FMR1	98.50	NM_002024.5
DAB1	98.80	NM_021080.4
CACNA2D2	98.90	NM_006030.3
APTX	99.00	NM_175073.2
TBP	99.30	NM_003194.4
CLN6	99.30	NM_017882.2
EIF2B2	99.50	NM_014239.3
CP	99.50	NM_000096.3
DNMT1	99.50	NM_001130823.2
MTPAP	99.50	NM_018109.3
PRRT2	99.60	NM_145239.2
DARS2	99.70	NM_018122.4
PNKP	99.80	NM_007254.3
CLCN2	99.80	NM_004366.5
PNPLA6	99.80	NM_006702.4
CACNA1A	99.80	NM_001127221.1
ATN1	99.80	NM_001007026.1
AFG3L2	99.80	NM_006796.2
AMPD2	99.80	NM_001257360.1
TRPC3	99.80	NM_001130698.1
GRM1	99.90	NM_001278064.1
TPP1	99.90	NM_000391.3
CACNA1G	99.90	NM_018896.4
ATP8A2	99.90	NM_016529.5
NPC1	99.90	NM_000271.4
PRKCG	99.90	NM_002739.4
SPG7	99.90	NM_003119.3
ATXN1	99.90	NM_000332.3
IFRD1	99.90	NM_001550.3
NKX6-2	99.90	NM_177400.2
TK2	99.90	NM_004614.4
TGM6	99.90	NM_198994.2
COX20	99.90	NM_198076.5
SLC9A1	100.00	NM_003047.4
TTPA	100.00	NM_000370.3
ATP2B3	100.00	NM_001001344.2
EIF2B4	100.00	NM_015636.3
PEX7	100.00	NM_000288.3
ANO10	100.00	NM_018075.4
SPTBN2	100.00	NM_006946.3
ITPR1	100.00	NM_002222.5
RUBCN	100.00	NM_001145642.4
PEX10	100.00	NM_153818.1
TMEM240	100.00	NM_001114748.1
WDR81	100.00	NM_001163809.1
CACNB4	100.00	NM_000726.4
ATM	100.00	NM_000051.3
VWA3B	100.00	NM_144992.4
AP1S2	100.00	NM_003916.4
SYNE1	100.00	NM_033071.3
SCYL1	100.00	NM_020680.3
STUB1	100.00	NM_005861.3
SLC1A3	100.00	NM_004172.4
LAMA1	100.00	NM_005559.3
NOP56	100.00	NM_006392.3
CYP27A1	100.00	NM_000784.3
KCNA1	100.00	NM_000217.2
SETX	100.00	NM_015046.6
CLN5	100.00	NM_006493.2
EIF2B3	100.00	NM_020365.4
PUM1	100.00	NM_001020658.1
MRE11	100.00	NM_005591.3
WWOX	100.00	NM_016373.3
GFAP	100.00	NM_002055.4
VLDLR	100.00	NM_003383.4
GBA2	100.00	NM_020944.2
KIF1C	100.00	NM_006612.5
CWF19L1	100.00	NM_018294.5
CCDC88C	100.00	NM_001080414.3
SACS	100.00	NM_014363.5
AAAS	100.00	NM_015665.5
ABCB7	100.00	NM_004299.5
ACO2	100.00	NM_001098.2
ARSA	100.00	NM_000487.5
ATCAY	100.00	NM_033064.4
ATG5	100.00	NM_004849.3
ATP1A3	100.00	NM_152296.5
CA8	100.00	NM_004056.5
CAPN1	100.00	NM_001198868.1
COQ8A	100.00	NM_020247.4
DNAJC19	100.00	NM_145261.3
DNAJC3	100.00	NM_006260.4
DNAJC5	100.00	NM_025219.2
EEF2	100.00	NM_001961.3
EIF2B1	100.00	NM_001414.3
EIF2B5	100.00	NM_003907.2
ELOVL4	100.00	NM_022726.3
ELOVL5	100.00	NM_021814.4
EXOSC3	100.00	NM_016042.3
FGF14	100.00	NM_004115.3
FLVCR1	100.00	NM_014053.3
FOLR1	100.00	NM_016725.2
GOSR2	100.00	NM_004287.4
GRID2	100.00	NM_001510.3
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
KCND3	100.00	NM_004980.4
KCNJ10	100.00	NM_002241.4
MARS2	100.00	NM_138395.3
MME	100.00	NM_007289.3
MTTP	100.00	NM_000253.3
NPC2	100.00	NM_006432.3
OPA1	100.00	NM_015560.2
PDYN	100.00	NM_024411.4
PHYH	100.00	NM_006214.3
PIK3R5	100.00	NM_001142633.2
PMM2	100.00	NM_000303.2
PMPCA	100.00	NM_015160.2
POLG	100.00	NM_002693.2
POLR3A	100.00	NM_007055.3
PPP2R2B	100.00	NM_181678.2
PRICKLE1	100.00	NM_153026.2
RNF170	100.00	NM_001160223.1
RNF216	100.00	NM_207111.3
SAMD9L	100.00	NM_152703.4
SEPSECS	100.00	NM_016955.3
SIL1	100.00	NM_022464.4
SLC52A2	100.00	NM_024531.4
SNX14	100.00	NM_153816.5
SRD5A3	100.00	NM_024592.4
TDP1	100.00	NM_018319.3
TDP2	100.00	NM_016614.2
TTBK2	100.00	NM_173500.3
TUBB4A	100.00	NM_006087.3
TWNK	100.00	NM_021830.4
VAMP1	100.00	NM_014231.4
WFS1	100.00	NM_006005.3
XRCC1	100.00	NM_006297.2
ZNF592	100.00	NM_014630.2
ATXN8OS	100.00	NG_016173.1