NGS Amyotrofe Lateraal Sclerose ALS

Panel naam	NGS Amyotrofe Lateraal Sclerose ALS
Panel methode	Wes-based NGS
Panel versie **
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Nee
Locatie	Locatie AMC

Genen (38)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
ALS2	C	100.00	100.00		NM_020919.4
ANG	C	100.00	100.00		NM_001097577.3
ANXA11	C	99.84	100.00		NM_145868.2
ATXN2	C	99.31	99.89		NM_001372574.1
C9orf72	C	99.99	100.00		NM_018325.5
CCNF	C	100.00	100.00		NM_001761.3
CHCHD10	C	100.00	100.00		NM_213720.3
CHMP2B	C	100.00	100.00		NM_014043.4
DAO	C	100.00	100.00		NM_001917.5
DCTN1	C	100.00	100.00		NM_004082.5
ERBB4	C	100.00	100.00		NM_005235.3
FIG4	C	99.99	100.00		NM_014845.6
FUS	C	100.00	100.00		NM_004960.4
GLE1	C	100.00	100.00		NM_001003722.2
HNRNPA1	C	65.02	69.59		NM_031157.4
HNRNPA2B1	C	100.00	100.00		NM_002137.4
MAPT	C	92.27	93.29		NM_001377265.1
MATR3	C	100.00	100.00		NM_018834.6
NEFH	C	100.00	100.00		NM_021076.4
NEK1	C	99.97	99.99		NM_001199397.3
OPTN	C	100.00	100.00		NM_001008212.2
PFN1	C	76.48	76.48		NM_005022.4
PRPH	C	100.00	100.00		NM_006262.4
PSEN1	C	100.00	100.00		NM_000021.4
SETX	C	100.00	100.00		NM_015046.7
SIGMAR1	C	100.00	100.00		NM_005866.4
SOD1	C	100.00	100.00		NM_000454.5
SPG11	C	100.00	100.00		NM_025137.4
SQSTM1	C	100.00	100.00		NM_003900.5
TAF15	C	100.00	100.00		NM_139215.3
TARDBP	C	100.00	100.00		NM_007375.4
TBK1	C	99.96	100.00		NM_013254.4
TREM2	C	100.00	100.00		NM_018965.4
TUBA4A	C	100.00	100.00		NM_006000.3
UBQLN2	C	100.00	100.00		NM_013444.4
UNC13A	C	99.98	100.00		NM_001080421.3
VAPB	C	100.00	100.00		NM_004738.5
VCP	C	99.98	99.98		NM_007126.5

Indicatie(s)
Amyotrofe lateraal sclerose ALS

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C