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NGS Disorder of sex development DSD

Panel name NGS Disorder of sex development DSD
Panel method WES-based NGS
Panel version ** v2
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (85) Quality % coverage >30 % coverage >20 Core-NL Note
AKR1C2
AMH
AMHR2
ANOS1
AR
ARX
ATRX
B9D1
BMP15
BMP4
BMP7
CBX2
CCNQ
CEP41
CHD7
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
CYP21A2
DHCR7
DHH
DMRT1
DMRT2
DYNC2H1
DYNC2I1
EMX2
ESR2
FGF8
FGF9
FGFR1
FKBP4
FOXF2
FOXL2
FRAS1
FREM2
FSHB
FSHR
GATA4
GNRH1
GNRHR
GRIP1
HOXA13
HSD17B3
HSD3B2
INSL3
KISS1
KISS1R
LHCGR
LHX1
LHX9
MAMLD1
MAP3K1
MCM8
MCM9
MKKS
NEK1
NR0B1
NR3C1
NR5A1
NSMF
NUP107
PBX1
POR
PROK2
PROKR2
PSMC3IP
RIPK4
ROR2
RSPO1
SOX3
SOX9
SRD5A2
SRY
STAG3
STAR
SYCE1
TAC3
TACR3
TCTN3
TSPYL1
WNT4
WT1
ZFPM2
Indication(s)
Disorders of sex development DSD

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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