Neurology

None

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
Chromosome 22Q11.2 Deletion Syndrome,...	Gene NGS
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

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