Product | Type of test | Genes |
---|---|---|
Alport syndrome | Targeted Exome | COL4A3, COL4A4 |
Alport syndrome | Targeted Exome | COL4A5, COL4A3, COL4A4 |
Alport syndrome | Gene NGS | COL4A3 |
Alport syndrome | Gene NGS | COL4A4 |
Alport syndrome (X-Linked) | Gene NGS | COL4A5 |
Alström syndrome | Gene NGS | ALMS1 |
Alternating hemiplegia of childhood 2 | Gene NGS | ATP1A3 |
Alzheimer (presenilina 2),síndrome | Gene NGS | PSEN2 |
Alzheimer disease | NGS Panel | APP, PSEN1, PSEN2 |
Alzhemier, síndrome | Targeted Exome | PSEN1, PSEN2, APP |
Amelogenesis | Gene NGS | FKBP10 |
Amelogenesis imperfecta | Targeted Exome | AMBN, AMELX, C4orf26, CNNM4, COL17A1, DLX3, DSPP, ENAM, FAM20A, FAM20C, FAM83H, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20, ROGDI, SLC24A4, STIM1, WDR72 |
Amyloidosis, hereditary | Gene NGS | TTR |
Amyloidosis, hereditary | Gene NGS | TTR |
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 |