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Product | Type of test | Genes |
---|---|---|
Alzheimer (presenilina 2),síndrome | Gene NGS | PSEN2 |
Alzheimer disease | NGS Panel | APP, PSEN1, PSEN2 |
Alzhemier, síndrome | Targeted Exome | PSEN1, PSEN2, APP |
Amyotrophic lateral sclerosis | 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 |
Amyotrophic lateral sclerosis | 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 |
Cerebral cavernous | NGS Panel | KRIT1, CCM2,PDCD10 |
Charcot-Marie-Tooth axonal, tipo 2K (CMT2K) | Gene NGS | JPH1 |
Choreoacanthocytosis syndrome | Gene NGS | VPS13A |
Deficiencia de WDR1 | Gene NGS | WDR1 |
Dementia, frontotemporal | Targeted Exome | PRNP, PSEN1, PSEN2, APP, GRN, MAPT, TREM2, CHMP2B, CSF1R, FUS, ITM2B, NOTCH3, SERPINI1, TARDBP, TYROBP y VCP |
Duchenne muscular dystrophy | Detección de deleciones/duplicaciones | DMD |
Duchenne-Becker muscular dystrophy | Gene NGS | DMD |
Dystonia, DOPA AR (Segawa syndrome) | Detección de deleciones/duplicaciones | TH |
Epilepsy with febrile plus + | Gene NGS | SCN1B, SCN1A, GABRG2, GABRD, SCN9A, STX1B, GPR98, CPA6 |
Esclerosis Lateral amiotrófica | Gene NGS | ALS2 |