| 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