AGDx NGS – Disorder of Sex Development (DSD) panel v2

Test code: V00297
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Genes

AKR1C2, AMH, AMHR2, ANOS1, AR, ARX, ATRX, B9D1, BMP15, BMP4, BMP7, CBX2, ccnq, CEP41, CHD7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, DMRT1, DMRT2, DYNC2H1, EMX2, ESR2, FGF8, FGF9, FGFR1, FKBP4, FOXF2, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA4, GNRH1, GRIP1, HOXA13, HSD17B3, HSD3B2, INSL3, KISS1, KISS1R, LHCGR, LHX1, LHX9, MAMLD1, MAP3K1, MCM8, MCM9, MKKS, NEK1, NR0B1, NR3C1, NR5A1, NSMF, NUP107, PBX1, POR, PROK2, PROKR2, PSMC3IP, RIPK4, ROR2, RSPO1, SOX3, SOX9, SRD5A2, SRY, STAG3, STAR, SYCE1, TAC3, TACR3, TCTN3, TSPYL1, WDR60, WNT4, WT1, ZFPM2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • 46XX sex reversal 1 (OMIM: 400045)
  • 46XY sex reversal 3 (OMIM: 612965)
  • 46XY sex reversal 5 (OMIM: 613080)