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Neurology

Neurology

None

Product Type of test Genes
Gene NGS PSEN2
NGS Panel APP, PSEN1, PSEN2
Targeted Exome PSEN1, PSEN2, APP
Targeted Exome ALS2, ANG, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
Targeted Exome ALS2, ANG, AR, BSCL2, C9ORF72 , CCNF, DCTN1, ERBB4, FIG4, FUS, GBE1, HNRNPA1, MATR3, NEFH, OPTN, PFN1, SETX, SIGMAR1, SMN1, SOD1, SPG11, SPG20, SQSTM1, TARDBP, TBK1, TRPM7, TUB4A4, UBQLN2, VAPB, VCP
NGS Panel KRIT1, CCM2,PDCD10
Gene NGS JPH1
Gene NGS VPS13A
Gene NGS
Gene NGS WDR1
Targeted Exome PRNP, PSEN1, PSEN2, APP, GRN, MAPT, TREM2, CHMP2B, CSF1R, FUS, ITM2B, NOTCH3, SERPINI1, TARDBP, TYROBP y VCP
Detección de deleciones/duplicaciones Analisis de deleción en D4Z4
Detección de deleciones/duplicaciones DMD
Gene NGS DMD
Detección de deleciones/duplicaciones TH
Gene NGS SCN1B, SCN1A, GABRG2, GABRD, SCN9A, STX1B, GPR98, CPA6