- Genetic tests
- Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel)
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel)
Full name: |
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel)
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Description: |
DSD-POI-HH gene panel |
Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
29 Jul 2019 - 17:52
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Changed: |
31 Jan 2023 - 13:56
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- AARS2
- AKR1C2
- AKR1C4
- AMH
- AMHR2
- ANOS1
- AR
- ARX
- ATRX
- AXL
- BMP15
- BMP4
- BNC1
- CBX2
- CHD7
- CLPP
- CREBBP
- CYB5A
- CYP11A1
- CYP11B1
- CYP17A1
- CYP19A1
- CYP21A2
- DHCR7
- DHH
- DHX37
- DMRT1
- DMXL2
- DUSP6
- EIF4ENIF1
- EP300
- ESR1
- ESR2
- FANCM
- FEZF1
- FGF17
- FGF8
- FGF9
- FGFR1
- FGFR2
- FIGLA
- FLRT3
- FOXL2
- FSHB
- FSHR
- GATA4
- GDF9
- GNRH1
- GNRHR
- GUCY2C
- HDAC8
- HESX1
- HFM1
- HHAT
- HOXA13
- HS6ST1
- HSD17B3
- HSD17B4
- HSD3B2
- IL17RD
- INSL3
- KHDRBS1
- KISS1
- KISS1R
- LARS2
- LEP
- LEPR
- LHB
- LHCGR
- LHX1
- LHX3
- LHX4
- MAMLD1
- MAP3K1
- MCM8
- MCM9
- MEIOB
- MID1
- MRPS22
- MSH4
- MSH5
- NANOS3
- NBN
- NOBOX
- NR0B1
- NR2F2
- NR5A1
- NSMF
- NUP107
- OTUD4
- PATL2
- PCSK1
- PNPLA6
- POF1B
- POLR2C
- POLR3A
- PORCN
- PROK2
- PROKR2
- PROP1
- PSMC3IP
- RNF216
- RSPO1
- RXFP2
- SEMA3A
- SEMA7A
- SOHLH1
- SOHLH2
- SOX10
- SOX2
- SOX3
- SOX8
- SOX9
- SPIDR
- SPRY4
- SRD5A2
- SRY
- STAG3
- SYCE1
- TAC3
- TACR3
- TP63
- TSPYL1
- TWNK
- WDR11
- WNT4
- WT1
- WWOX
- ZFPM2
- ZNRF3
-
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 99.98 1 AKR1C2 91.19 1 AKR1C4 100.00 1 AMH 100.00 1 AMHR2 99.96 1 ANOS1 99.96 1 AR 99.76 1 ARX 95.36 1 ATRX 99.44 1 AXL 99.97 1 BMP15 99.98 1 BMP4 100.00 1 BNC1 100.00 1 CBX2 100.00 1 CHD7 99.99 1 CLPP 99.99 1 CREBBP 99.97 1 CYB5A 99.98 1 CYP11A1 99.99 1 CYP11B1 100.00 1 CYP17A1 100.00 1 CYP19A1 99.99 1 CYP21A2 99.85 1 DHCR7 99.97 1 DHH 100.00 1 DHX37 99.98 1 DMRT1 99.99 1 DMXL2 99.86 1 DUSP6 99.99 1 EIF4ENIF1 100.00 1 EP300 99.97 1 ESR1 100.00 1 ESR2 99.96 1 FANCM 99.83 1 FEZF1 100.00 1 FGF17 99.81 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FIGLA 99.95 1 FLRT3 100.00 1 FOXL2 99.97 1 FSHB 100.00 1 FSHR 99.99 1 GATA4 99.99 1 GDF9 99.98 1 GNRH1 99.96 1 GNRHR 99.94 1 HDAC8 99.74 1 HESX1 99.77 1 HFM1 89.74 1 HHAT 99.93 1 HOXA13 99.94 1 HS6ST1 99.99 1 HSD17B3 99.77 1 HSD17B4 99.71 1 HSD3B2 100.00 1 IL17RD 99.94 1 INSL3 98.02 1 KHDRBS1 99.35 1 KISS1 99.97 1 KISS1R 100.00 1 LARS2 99.96 1 LEP 100.00 1 LEPR 92.52 1 LHB 99.93 1 LHCGR 99.94 1 LHX1 99.96 1 LHX3 99.99 1 LHX4 99.99 1 MAMLD1 99.84 1 MAP3K1 99.93 1 MCM8 98.78 1 MCM9 99.76 1 MEIOB 99.98 1 MID1 99.90 1 MRPS22 99.87 1 MSH4 89.29 1 MSH5 100.00 1 NANOS3 100.00 1 NBN 99.93 1 NOBOX 99.95 1 NR0B1 99.98 1 NR2F2 100.00 1 NR5A1 99.92 1 NSMF 100.00 1 NUP107 97.46 1 OTUD4 99.83 1 PATL2 99.99 1 PCSK1 99.99 1 PNPLA6 99.99 1 POF1B 99.34 1 POLR2C 99.99 1 POLR3A 99.97 1 PORCN 99.98 1 PROK2 98.65 1 PROKR2 100.00 1 PROP1 99.88 1 PSMC3IP 99.82 1 RNF216 99.99 1 RSPO1 99.99 1 RXFP2 99.99 1 SEMA3A 99.42 1 SEMA7A 99.90 1 SOHLH1 100.00 1 SOHLH2 100.00 1 SOX10 100.00 1 SOX2 100.00 1 SOX3 100.00 1 SOX8 99.99 1 SOX9 100.00 1 SPIDR 99.96 1 SPRY4 100.00 1 SRD5A2 100.00 1 SRY 51.98 1 STAG3 98.99 1 GUCY2C 99.97 1 SYCE1 99.99 1 TAC3 99.94 1 TACR3 99.99 1 TP63 99.97 1 TSPYL1 100.00 1 TWNK 100.00 1 WDR11 99.91 1 WNT4 99.94 1 WT1 99.99 1 WWOX 100.00 1 ZFPM2 100.00 1 ZNRF3 99.94 1