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Differences of sex development (32-gene panel, NGS)

Code: 3271

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 (5 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(32 genes)

  • AKR1C2
  • AR
  • ARX
  • ATRX
  • CBX2
  • CDKN1C
  • CHD7
  • CUL4B
  • CYB5A
  • CYP11A1
  • CYP11B1
  • CYP17A1
  • CYP19A1
  • CYP21A2
  • DHCR7
  • DHH
  • DMRT1
  • GATA4
  • GLI2
  • HSD17B3
  • HSD3B2
  • LHCGR
  • MAMLD1
  • MAP3K1
  • NR0B1
  • NR5A1
  • POR
  • RPL10
  • RSPO1
  • SAMD9
  • SEMA3E
  • SOX10

Specialties

Book a collection