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Disorder Names

Leukoencephalopathy with vanishing white matter(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

Leukoencephalopathy, progressive, with ovarian failure(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

Ovarioleukodystrophy(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

Premature ovarian failure(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

Premature ovarian failure(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

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, INVS, IQCB1, ITGA3, LAMB2, LMX1B, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, PDSS1, PDSS2, PLCE1, PTPRO, REN, RPGRIP1L, SCARB2, SDCCAG8, SLC26A1, SLC34A1, SLC36A2, SLC6A19, SLC6A20, SLC9A3R1, SMARCAL1, TMEM67, TRAF3IP1, TTC21B,UMOD, WDR19, WT1, XPNPEP3)

Osteoporosis(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)