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Disorder Names

  • MORM syndrome (....)
  • Progesterone resistance (....)
  • 46 XX disorders (RSPO1, WNT4....)
  • Müllerian aplasia and hyperandrogenism (RSPO1, WNT4....)
  • SERKAL syndrome (RSPO1, WNT4....)
  • 46 XY disorders (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Androgen insensitivity (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Campomelic dysplasia with autosomal sex reversal (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Leydig cell hypoplasia with pseudohermaphroditism (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Pseudohermaphroditism, male, with gynecomastia (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Swyer syndrome (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • 17-alpha-hydroxylase/17,20-lyase deficiency (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Aromatase deficiency (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Aromatase excess syndrome (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Disorders with androgen excess (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Glucocorticoid resistance (CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR....)
  • Boucher-Neuhauser syndrome (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)
  • Hypogonadotropic hypogonadism (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)
  • Woodhouse-Sakati syndrome (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)
  • Malouf syndrome (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)
  • Malouf syndrome (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Hypospadias (AR, MAMLD1, MID1, SPECC1L, SRD5A2....)
  • Pseudovaginal perineoscrotal hypospadias (AR, MAMLD1, MID1, SPECC1L, SRD5A2....)
  • Ovarian dysgenesis (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Ovarian dysgenesis (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Perrault syndrome (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Cortisone reductase deficiency 1 (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Cortisone reductase deficiency 2 (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Leprechaunism/Donohue Syndrome (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Precocious puberty (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Precocious puberty, central (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Precocious puberty, male (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Galactosemia (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Leukoencephalopathy with vanishing white matter (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Ovarioleukodystrophy (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Premature ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Premature ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Spermatogenic failure (AURKC, CATSPER1, DPY19L2, KLHL10, NR5A1, SEPT12, SPATA16, SYCP3....)
  • Spermatogenic failure (AURKC, CATSPER1, DPY19L2, KLHL10, NR5A1, SEPT12, SPATA16, SYCP3....)
  • Nephronophthisis (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Osteoporosis (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)