Broj gena
153
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Motor Neuron Disease panel Genome uključuje gene povezane sa bolestima gornjeg motornog neurona (MND) (npr. naslijeđene spastične paraplegije, ALS), donjeg MND (npr. SMA, spinalna i bulbarna mišićna atrofija) i miješanim tipovima MND. Ovaj panel uključuje skrining ekspanzije ponavljanja gena AR, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FXN, HTT, NOP56, PPP2R2B, TBP, kao i CNV skrining gena SMN1.
Geni
AARS1, ABCD1, ABHD16A, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, AR, ARG1, ARL6IP1, ASAH1, ATL1, ATP13A2, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, B4GALNT1, BICD2, BSCL2, C19orf12, C9orf72, CACNA1A, CAPN1, CAV1, CHCHD10, CHMP2B, CYP27A1, CYP2U1, CYP7B1, DARS1, DCTN1, DDHD1, DDHD2, DMPK, DNAJB2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FBXO38, FIG4, FUS, FXN, GAD1, GARS1, GBA2, GCH1, GJC2, GRN, HACE1, HFE, HIKESHI, HNRNPA1, HSPB1, HSPB8, HSPD1, HTT, IBA57, IGHMBP2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LYST, MAG, MARS1, MARS2, MTPAP, MTRFR, NEFH, NEK1, NIPA1, NKX6-2, NOP56, NT5C2, OPA3, OPTN, PCDH12, PCYT2, PFN1, PGAP1, PLEKHG5, PLP1, PNPLA6, POLR3A, PPP2R2B, PSEN1, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SMN1, SNRPN, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SYT2, TARDBP, TBK1, TBP, TECPR2, TFG, TRIP4, TRPV4, TUBA4A, TUBB4A, UBA1, UBAP1, UBQLN2, VAMP1, VAPB, VCP, VRK1, WASHC5, WDR45B, ZEB2, ZFYVE26