Broj gena
151
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel Genome za nasljednu spastičnu paraplegiju uključuje gene povezane s čistim i kompleksnim tipovima HSP-a, kao i oblicima uzrokovanim ekspanzijom ponavljajućih sekvenci (npr. SPG4, SPG20, SCA poremećaji sa spastičnošću). Ovaj panel uključuje skrining ekspanzije ponavljajućih sekvenci u genima ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, CACNA1A, FXN, HTT, PPP2R2B, PRNP, TBP.
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, RNU7-1, 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