NGS Disorder of sex development DSD


Panel naam	NGS Disorder of sex development DSD
Panel methode	Wes-based NGS
Panel versie **	v2
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC


Genen (85)	Kwaliteit	% coverage >30	% coverage >20	Notitie
AKR1C2	C	91.06	91.16	NM_001393392.1
AMH	C	100.00	100.00	NM_000479.5
AMHR2	C	100.00	100.00	NM_020547.3
ANOS1	C	100.00	100.00	NM_000216.4
AR	C	98.12	99.29	NM_000044.6
ARX	C	86.25	89.24	NM_139058.3
ATRX	C	99.92	99.99	NM_000489.5
B9D1	C	99.9	100.00	NM_015681.6
BMP15	C	100.00	100.00	NM_005448.2
BMP4	C	100.00	100.00	NM_001202.6
BMP7	C	100.00	100.00	NM_001719.3
CBX2	C	100.00	100.00	NM_005189.3
CCNQ	C	99.51	99.98	NM_152274.5
CEP41	C	100.00	100.00	NM_018718.3
CHD7	C	100.00	100.00	NM_017780.4
CYB5A	C	100.00	100.00	NM_148923.4
CYP11A1	C	100.00	100.00	NM_000781.3
CYP11B1	C	100.00	100.00	NM_000497.4
CYP17A1	C	100.00	100.00	NM_000102.4
CYP19A1	C	100.00	100.00	NM_000103.4
CYP21A2	C	99.94	99.99	NM_000500.9
DHCR7	C	100.00	100.00	NM_001360.3
DHH	C	100.00	100.00	NM_021044.4
DMRT1	C	100.00	100.00	NM_021951.3
DMRT2	C	99.99	100.00	NM_181872.6
DYNC2H1	C	99.99	99.99	NM_001377.3
DYNC2I1	C	99.98	99.99	NM_018051.5
EMX2	C	100.00	100.00	NM_004098.4
ESR2	C	100.00	100.00	NM_001437.3
FGF8	C	100.00	100.00	NM_033163.5
FGF9	C	100.00	100.00	NM_002010.3
FGFR1	C	100.00	100.00	NM_023110.3
FKBP4	C	100.00	100.00	NM_002014.4
FOXF2	C	92.85	97.18	NM_001452.2
FOXL2	C	95.46	99.18	NM_023067.4
FRAS1	C	100.00	100.00	NM_025074.7
FREM2	C	100.00	100.00	NM_207361.6
FSHB	C	100.00	100.00	NM_001382289.1
FSHR	C	100.00	100.00	NM_000145.4
GATA4	C	99.96	100.00	NM_001308093.3
GNRH1	C	100.00	100.00	NM_001083111.2
GNRHR	C	100.00	100.00	NM_000406.3
GRIP1	C	100.00	100.00	NM_001366722.1
HOXA13	C	91.69	97.15	NM_000522.5
HSD17B3	C	99.99	100.00	NM_000197.2
HSD3B2	C	100.00	100.00	NM_000198.4
INSL3	C	100.00	100.00	NM_005543.4
KISS1	C	100.00	100.00	NM_002256.4
KISS1R	C	100.00	100.00	NM_032551.5
LHCGR	C	100.00	100.00	NM_000233.4
LHX1	C	99.82	99.99	NM_005568.5
LHX9	C	99.93	100.00	NM_020204.3
MAMLD1	C	100.00	100.00	NM_005491.5
MAP3K1	C	100.00	100.00	NM_005921.2
MCM8	C	100.00	100.00	NM_032485.6
MCM9	C	100.00	100.00	NM_017696.3
MKKS	C	100.00	100.00	NM_170784.3
NEK1	C	99.97	99.99	NM_001199397.3
NR0B1	C	100.00	100.00	NM_000475.5
NR3C1	C	100.00	100.00	NM_000176.3
NR5A1	C	99.94	100.00	NM_004959.5
NSMF	C	100.00	100.00	NM_001130969.3
NUP107	C	99.48	99.87	NM_020401.4
PBX1	C	99.97	100.00	NM_002585.4
POR	C	99.99	100.00	NM_001395413.1
PROK2	C	99.8	100.00	NM_001126128.2
PROKR2	C	100.00	100.00	NM_144773.4
PSMC3IP	C	100.00	100.00	NM_016556.4
RIPK4	C	100.00	100.00	NM_020639.3
ROR2	C	100.00	100.00	NM_004560.4
RSPO1	C	100.00	100.00	NM_001242908.2
SOX3	C	100.00	100.00	NM_005634.3
SOX9	C	100.00	100.00	NM_000346.4
SRD5A2	C	100.00	100.00	NM_000348.3
SRY	C	53	53	NM_003140.3
STAG3	C	99.38	99.89	NM_001282717.2
STAR	C	100.00	100.00	NM_000349.3
SYCE1	C	100.00	100.00	NM_001143764.3
TAC3	C	100.00	100.00	NM_013251.4
TACR3	C	100.00	100.00	NM_001059.3
TCTN3	C	100.00	100.00	NM_015631.6
TSPYL1	C	100.00	100.00	NM_003309.4
WNT4	C	93.86	96.26	NM_030761.5
WT1	C	99.92	100.00	NM_024426.6
ZFPM2	C	100.00	100.00	NM_012082.4


Indicatie(s)
Disorders of sex development DSD

** 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