Skip to content
Amsterdam UMC Genome Diagnostics
  • Home
  • DNA Tests
  • Panels info
  • Order DNA test
  • My selection
  • Account
  • Login

NGS Disorder of sex development DSD

Panel name NGS Disorder of sex development DSD
Panel method Wes-based NGS
Panel version ** v2
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (85) Quality % coverage >30 % coverage >20 Core-NL Note
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
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


  • Forms
  • Material and Shipping instructions
  • Conditions application Genome Diagnostics
  • General Terms and Conditions Amsterdam UMC
  • Privacy & Cookies
  • Disclaimer
  • About AGDx
  • Our experts
  • News
  • Frequently Asked Questions
  • Feedback
  • Contact
  • Dutch
2023 © AGDx
  • Inloggen
  • Registreren

Wachtwoord vergeten?

"*" indicates required fields

AGB Code (alleen voor Nederlandse specialisten), zie: AGB-code register
Naam*
Land*
E-mailadres*
Wachtwoord*
Strength indicator

Wachtwoord vergeten? Vul alstublieft uw e-mail adres in. U ontvangt een mail met een link om een nieuw wachtwoord in te stellen.

Terug naar inloggen