Product | Type of test | Genes |
---|---|---|
Leigh syndrome | Targeted Exome | ACAD9, ACO2, ADCK3 (CABC1; COQ8),AFG3L2, AIFM1, APTX, ATPAF2 (ATP12),BCS1L, BOLA3, C10ORF2, C8ORF38, COQ2,COQ9, COX10, COX14 (C12ORF62), COX15,COX20 (FAM36A), COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFDH, ETHE1,FARS2, FASTKD2, FH, FOXRED1, GFER,GFM1 (EFG1), GFM2, HLCS, HSPD1, LIAS,LRPPRC, MARS2, MFN2, MPV17, MTFMT,MTPAP, NDUFA1, NDUFA10, NDUFA11,NDUFA12, NDUFA2, NDUFA9, NDUFAF2,NDUFAF4 (C6ORF66), NDUFAF7 (C2ORF56),NDUFS1, NDUFS2, NDUFS3, NDUFS4,NDUFS6, NDUFS7, NDUFS8, NDUFV1,NDUFV2, NFU1, PC, PDHA1, PDHB, PDHX,PDP1, PDSS1,PDSS2,PNPT1, RARS2,RMND1, SCO1, SCO2, SDHAF1, SERAC1,SLC19A3, SUCLA2, SUCLG1, SURF1,TACO1, TIMM44, TK2, TMEM70, TPK1, TSFM,TTC19, TUFM, TYMP |
Lennox-Gastaut syndrome | Gene NGS | MAPK10 |
LEOPARD syndrome 1 | Gene NGS | PTPN11 |
LEOPARD syndrome 2 | Gene NGS | RAF1 |
Leptin receptor-related monogenic obesity | Gene NGS | LEPR |
Leri-Weill dyschondrosteosis | Gene NGS | SHOX |
Lesch-Nyhan syndrome | Gene NGS | HPRT1 |
Leukocyte adhesion deficiency type 1 | Gene NGS | ITGB2 |
Leukodystrophies (49 genes) | Targeted Exome | ABCD1, ACOX1, ADAR, ALDH3A2, ARSA, ASPA, CLCN2, CSF1R, CYP27A1, DARS, DARS2, EARS2, EIF2B1-5, FAM126A, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HSD17B4, LMNB1, MLC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2 , PEX26, PEX3, PEX5, PEX6 , PLP1, POLR3A, POLR3B, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC17A5, SOX10, TREX1, TUBB4A |
Leukoencephalopathy with brainstem and... | Gene NGS | DARS2 |
Leukoencephalopathy with vanishing white... | Targeted Exome | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 |
Leukoencephalopathy with vanishing white... | Gene NGS | EIF2B5 |
Leukoencephalopathy with vanishing white... | Gene NGS | EIF2B2 |
Leukoencephalopathy with vanishing white... | Gene NGS | EIF2B4 |
Leukoencephalopathy with vanishing white... | Gene NGS | EIF2B3 |
Leukoencephalopathy with vanishing white... | Gene NGS | EIF2B1 |