Broj gena
153
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Motor Neuron Disease panel 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. Varijante u genima AR, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FXN, HTT, NOP56, PPP2R2B i TBP ispituju se samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj ekspanzije ponavljanja povezan sa jednim ili više gore navedenih gena, preporučuje se Genome verzija ovog panela. Napominjemo da najčešće varijante povezane sa bolešću u genu SMN1 nisu obuhvaćene ovom NGS analizom.
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