Ambiguous genitalia (46-gene panel, NGS)
Code: 10069
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (10 mL)
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 33 working days
- Preparation and notes
- IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.
Genes tested(46 genes)
- AMH
- AMHR2
- AR
- ARX
- ATRX
- BCOR
- CDKN1C
- CEP41
- CHD7
- CREBBP
- CYP11A1
- CYP17A1
- CYP19A1
- DHCR7
- DHH
- DYNC2H1
- ERCC3
- FGF8
- FGFR1
- FIG4
- FRAS1
- GATA4
- GNRHR
- HSD17B3
- HSD3B2
- IL17RD
- IRF6
- KISS1R
- LHCGR
- MAMLD1
- MAP3K1
- MKRN3
- MKS1
- NEK1
- NR0B1
- NR5A1
- POR
- PROK2
- PROKR2
- RSPO1
- SOX9
- SRD5A2
- STAR
- TACR3
- WT1
- ZFPM2