Broj gena
151
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za nasljednu spastičnu paraplegiju uključuje gene povezane s čistim i kompleksnim tipovima HSP-a. Oblici HSP-a uzrokovani ekspanzijom ponavljajućih sekvenci nisu uključeni u ovaj panel. Ako postoji klinička sumnja na oblik HSP-a uzrokovan ekspanzijom ponavljajućih sekvenci, preporučuje se Genome verzija ovog panela.
Geni
ABCD1, ABHD16A, ACBD6, ACER3, ADAR, AFG2B, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALK, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ATAD3A, ATL1, ATP13A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, B4GALNT1, BCAS3, BICD2, BLOC1S1, BORCS8, BSCL2, C19orf12, CACNA1A, CAPN1, CLDN11, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DDX3X, DSTYK, ELOVL1, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAR1, FARS2, FBXO7, FXN, GAD1, GALC, GBA2, GBE1, GCH1, GJA1, GJC2, GLRX5, GPT2, HACE1, HECTD4, HIKESHI, HMBS, HPDL, HSPD1, HTT, IBA57, IFIH1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KPNA3, L1CAM, LETM1, LYST, MAG, MAPK8IP3, MARS1, MARS2, MTPAP, MTRFR, NDUFA12, NIPA1, NKX6-2, NRCAM, NSRP1, NT5C2, OPA3, PCDH12, PCYT2, PGAP1, PI4KA, PLP1, PNPLA6, POLR3A, PPFIBP1, PPP2R2B, PRNP, PSEN1, RAB3GAP2, REEP1, REEP2, RETREG1, RINT1, RNASEH2B, RNF170, RTN2, SACS, SARS2, SERAC1, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTSSA, STN1, TAF8, TBP, TECPR2, TFG, TMEM63C, TUBB4A, UBAP1, UCHL1, VAMP1, WASHC5, WDR45B, ZEB2, ZFYVE26