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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

Specialties

Book a collection