Тест 54.
Наследствена спастична параплегия NGS
Мутации в 111 гена, асоциирани с наследствена спастична параплегия
ABCD1, ABHD16A, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CDK16, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DSTYK, ENTPD1, EPT1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, GAD1, GBA2, GCH1, GJC2, HACE1, HIKESHI, HSPD1, IBA57, IFIH1, INTS8, IRF2BPL, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS2, MTPAP, NIPA1, NKX6-2, NT5C2, OPA3, PCDH12, PCYT2, PGAP1, PLP1, PNPLA6, POLR3A, POLR3K, PSEN1, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SARS2, SERAC1, SHMT2, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TOE1, TUBB4A, UBAP1, UCHL1, VAMP1, VPS37A, WASHC5, WDR45B, WDR48, ZEB2, ZFYVE26, ZFYVE27
Срок за изпълнение:
40 работни дни